Name: rs6180
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs6180

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:42719137 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: A>C / A>G
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.459151 (171572/373672, ALFA)
C=0.430062 (113833/264690, TOPMED)
C=0.436149 (109339/250692, GnomAD_exome) (+ 25 more)
C=0.426161 (59654/139980, GnomAD)
C=0.443386 (53569/120818, ExAC)
C=0.41155 (32389/78700, PAGE_STUDY)
A=0.44306 (12520/28258, 14KJPN)
A=0.44189 (7406/16760, 8.3KJPN)
C=0.4399 (2817/6404, 1000G_30x)
C=0.4445 (2226/5008, 1000G)
C=0.4335 (1942/4480, Estonian)
C=0.4455 (1717/3854, ALSPAC)
C=0.4461 (1654/3708, TWINSUK)
A=0.3874 (1135/2930, KOREAN)
C=0.4779 (996/2084, HGDP_Stanford)
C=0.4677 (883/1888, HapMap)
A=0.3865 (708/1832, Korea1K)
A=0.4903 (555/1132, Daghestan)
C=0.456 (455/998, GoNL)
C=0.398 (239/600, NorthernSweden)
A=0.479 (282/589, Vietnamese)
C=0.455 (243/534, MGP)
A=0.340 (123/362, SGDP_PRJ)
C=0.385 (117/304, FINRISK)
C=0.403 (87/216, Qatari)
C=0.47 (38/80, Ancient Sardinia)
C=0.47 (19/40, GENOME_DK)
A=0.26 (10/38, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: GHR : Missense Variant
Publications: 13 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	390148	A=0.541369	C=0.458631	0.293801	0.211063	0.495135	1
European	Sub	332856	A=0.540943	C=0.459057	0.292847	0.210962	0.496191	0
African	Sub	16542	A=0.60410	C=0.39590	0.362592	0.154395	0.483013	0
African Others	Sub	592	A=0.627	C=0.373	0.381757	0.128378	0.489865	0
African American	Sub	15950	A=0.60326	C=0.39674	0.361881	0.155361	0.482759	0
Asian	Sub	6960	A=0.3955	C=0.6045	0.15546	0.364368	0.480172	0
East Asian	Sub	4994	A=0.3859	C=0.6141	0.144974	0.373248	0.481778	0
Other Asian	Sub	1966	A=0.4201	C=0.5799	0.182096	0.341811	0.476094	0
Latin American 1	Sub	1424	A=0.5400	C=0.4600	0.283708	0.203652	0.51264	0
Latin American 2	Sub	3158	A=0.6409	C=0.3591	0.416719	0.134896	0.448385	1
South Asian	Sub	5224	A=0.5412	C=0.4588	0.301302	0.218989	0.479709	2
Other	Sub	23984	A=0.53336	C=0.46664	0.282522	0.215811	0.501668	0

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	373672	A=0.540849	C=0.459151
Allele Frequency Aggregator	European	Sub	322670	A=0.541175	C=0.458825
Allele Frequency Aggregator	Other	Sub	22532	A=0.53275	C=0.46725
Allele Frequency Aggregator	African	Sub	11704	A=0.60680	C=0.39320
Allele Frequency Aggregator	Asian	Sub	6960	A=0.3955	C=0.6045
Allele Frequency Aggregator	South Asian	Sub	5224	A=0.5412	C=0.4588
Allele Frequency Aggregator	Latin American 2	Sub	3158	A=0.6409	C=0.3591
Allele Frequency Aggregator	Latin American 1	Sub	1424	A=0.5400	C=0.4600
TopMed	Global	Study-wide	264690	A=0.569938	C=0.430062
gnomAD - Exomes	Global	Study-wide	250692	A=0.563851	C=0.436149
gnomAD - Exomes	European	Sub	134854	A=0.558760	C=0.441240
gnomAD - Exomes	Asian	Sub	48940	A=0.48445	C=0.51555
gnomAD - Exomes	American	Sub	34490	A=0.67538	C=0.32462
gnomAD - Exomes	African	Sub	16226	A=0.61309	C=0.38691
gnomAD - Exomes	Ashkenazi Jewish	Sub	10070	A=0.56753	C=0.43247
gnomAD - Exomes	Other	Sub	6112	A=0.5458	C=0.4542
gnomAD - Genomes	Global	Study-wide	139980	A=0.573839	C=0.426161
gnomAD - Genomes	European	Sub	75826	A=0.55555	C=0.44445
gnomAD - Genomes	African	Sub	41948	A=0.60782	C=0.39218
gnomAD - Genomes	American	Sub	13628	A=0.61366	C=0.38634
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	A=0.5527	C=0.4473
gnomAD - Genomes	East Asian	Sub	3110	A=0.4164	C=0.5836
gnomAD - Genomes	Other	Sub	2146	A=0.5638	C=0.4362
ExAC	Global	Study-wide	120818	A=0.556614	C=0.443386
ExAC	Europe	Sub	72972	A=0.55440	C=0.44560
ExAC	Asian	Sub	25100	A=0.48733	C=0.51267
ExAC	American	Sub	11472	A=0.67530	C=0.32470
ExAC	African	Sub	10382	A=0.61115	C=0.38885
ExAC	Other	Sub	892	A=0.526	C=0.474
The PAGE Study	Global	Study-wide	78700	A=0.58845	C=0.41155
The PAGE Study	AfricanAmerican	Sub	32516	A=0.61336	C=0.38664
The PAGE Study	Mexican	Sub	10810	A=0.65939	C=0.34061
The PAGE Study	Asian	Sub	8318	A=0.4419	C=0.5581
The PAGE Study	PuertoRican	Sub	7916	A=0.5757	C=0.4243
The PAGE Study	NativeHawaiian	Sub	4534	A=0.5340	C=0.4660
The PAGE Study	Cuban	Sub	4230	A=0.5650	C=0.4350
The PAGE Study	Dominican	Sub	3828	A=0.5797	C=0.4203
The PAGE Study	CentralAmerican	Sub	2450	A=0.6465	C=0.3535
The PAGE Study	SouthAmerican	Sub	1982	A=0.6085	C=0.3915
The PAGE Study	NativeAmerican	Sub	1260	A=0.5849	C=0.4151
The PAGE Study	SouthAsian	Sub	856	A=0.525	C=0.475
14KJPN	JAPANESE	Study-wide	28258	A=0.44306	C=0.55694
8.3KJPN	JAPANESE	Study-wide	16760	A=0.44189	C=0.55811
1000Genomes_30x	Global	Study-wide	6404	A=0.5601	C=0.4399
1000Genomes_30x	African	Sub	1786	A=0.6232	C=0.3768
1000Genomes_30x	Europe	Sub	1266	A=0.5679	C=0.4321
1000Genomes_30x	South Asian	Sub	1202	A=0.5507	C=0.4493
1000Genomes_30x	East Asian	Sub	1170	A=0.4316	C=0.5684
1000Genomes_30x	American	Sub	980	A=0.600	C=0.400
1000Genomes	Global	Study-wide	5008	A=0.5555	C=0.4445
1000Genomes	African	Sub	1322	A=0.6210	C=0.3790
1000Genomes	East Asian	Sub	1008	A=0.4306	C=0.5694
1000Genomes	Europe	Sub	1006	A=0.5815	C=0.4185
1000Genomes	South Asian	Sub	978	A=0.538	C=0.462
1000Genomes	American	Sub	694	A=0.599	C=0.401
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.5665	C=0.4335
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.5545	C=0.4455
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.5539	C=0.4461
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.3874	C=0.6126, G=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	A=0.5221	C=0.4779
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.419	C=0.581
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.464	C=0.536
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.414	C=0.586
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.531	C=0.469
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.736	C=0.264
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.750	C=0.250
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.61	C=0.39
HapMap	Global	Study-wide	1888	A=0.5323	C=0.4677
HapMap	American	Sub	766	A=0.522	C=0.478
HapMap	African	Sub	692	A=0.605	C=0.395
HapMap	Asian	Sub	254	A=0.382	C=0.618
HapMap	Europe	Sub	176	A=0.506	C=0.494
Korean Genome Project	KOREAN	Study-wide	1832	A=0.3865	C=0.6135
Genome-wide autozygosity in Daghestan	Global	Study-wide	1132	A=0.4903	C=0.5097
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	A=0.479	C=0.521
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	A=0.472	C=0.528
Genome-wide autozygosity in Daghestan	Central Asia	Sub	118	A=0.492	C=0.508
Genome-wide autozygosity in Daghestan	Europe	Sub	108	A=0.528	C=0.472
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	A=0.58	C=0.42
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	A=0.39	C=0.61
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.544	C=0.456
Northern Sweden	ACPOP	Study-wide	600	A=0.602	C=0.398
A Vietnamese Genetic Variation Database	Global	Study-wide	589	A=0.479	C=0.521
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	A=0.545	C=0.455
SGDP_PRJ	Global	Study-wide	362	A=0.340	C=0.660
FINRISK	Finnish from FINRISK project	Study-wide	304	A=0.615	C=0.385
Qatari	Global	Study-wide	216	A=0.597	C=0.403
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	80	A=0.53	C=0.47
The Danish reference pan genome	Danish	Study-wide	40	A=0.53	C=0.47
Siberian	Global	Study-wide	38	A=0.26	C=0.74

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 5	NC_000005.10:g.42719137A>C
GRCh38.p14 chr 5	NC_000005.10:g.42719137A>G
GRCh37.p13 chr 5	NC_000005.9:g.42719239A>C
GRCh37.p13 chr 5	NC_000005.9:g.42719239A>G
GHR RefSeqGene	NG_011688.2:g.300214A>C
GHR RefSeqGene	NG_011688.2:g.300214A>G

Gene: GHR, growth hormone receptor (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
GHR transcript variant 12	NM_001242462.1:c.*672=	N/A	3 Prime UTR Variant
GHR transcript variant 10	NM_001242460.1:c.1564A>C	I [ATC] > L [CTC]	Coding Sequence Variant
growth hormone receptor isoform 3 precursor	NP_001229389.1:p.Ile522Leu	I (Ile) > L (Leu)	Missense Variant
GHR transcript variant 10	NM_001242460.1:c.1564A>G	I [ATC] > V [GTC]	Coding Sequence Variant
growth hormone receptor isoform 3 precursor	NP_001229389.1:p.Ile522Val	I (Ile) > V (Val)	Missense Variant
GHR transcript variant 2	NM_001242399.2:c.1651A>C	I [ATC] > L [CTC]	Coding Sequence Variant
growth hormone receptor isoform 2 precursor	NP_001229328.1:p.Ile551Leu	I (Ile) > L (Leu)	Missense Variant
GHR transcript variant 2	NM_001242399.2:c.1651A>G	I [ATC] > V [GTC]	Coding Sequence Variant
growth hormone receptor isoform 2 precursor	NP_001229328.1:p.Ile551Val	I (Ile) > V (Val)	Missense Variant
GHR transcript variant 3	NM_001242400.2:c.1630A>C	I [ATC] > L [CTC]	Coding Sequence Variant
growth hormone receptor isoform 1 precursor	NP_001229329.1:p.Ile544Leu	I (Ile) > L (Leu)	Missense Variant
GHR transcript variant 3	NM_001242400.2:c.1630A>G	I [ATC] > V [GTC]	Coding Sequence Variant
growth hormone receptor isoform 1 precursor	NP_001229329.1:p.Ile544Val	I (Ile) > V (Val)	Missense Variant
GHR transcript variant 5	NM_001242402.2:c.1630A>C	I [ATC] > L [CTC]	Coding Sequence Variant
growth hormone receptor isoform 1 precursor	NP_001229331.1:p.Ile544Leu	I (Ile) > L (Leu)	Missense Variant
GHR transcript variant 5	NM_001242402.2:c.1630A>G	I [ATC] > V [GTC]	Coding Sequence Variant
growth hormone receptor isoform 1 precursor	NP_001229331.1:p.Ile544Val	I (Ile) > V (Val)	Missense Variant
GHR transcript variant 7	NM_001242404.2:c.1630A>C	I [ATC] > L [CTC]	Coding Sequence Variant
growth hormone receptor isoform 1 precursor	NP_001229333.1:p.Ile544Leu	I (Ile) > L (Leu)	Missense Variant
GHR transcript variant 7	NM_001242404.2:c.1630A>G	I [ATC] > V [GTC]	Coding Sequence Variant
growth hormone receptor isoform 1 precursor	NP_001229333.1:p.Ile544Val	I (Ile) > V (Val)	Missense Variant
GHR transcript variant 8	NM_001242405.2:c.1630A>C	I [ATC] > L [CTC]	Coding Sequence Variant
growth hormone receptor isoform 1 precursor	NP_001229334.1:p.Ile544Leu	I (Ile) > L (Leu)	Missense Variant
GHR transcript variant 8	NM_001242405.2:c.1630A>G	I [ATC] > V [GTC]	Coding Sequence Variant
growth hormone receptor isoform 1 precursor	NP_001229334.1:p.Ile544Val	I (Ile) > V (Val)	Missense Variant
GHR transcript variant 9	NM_001242406.2:c.1630A>C	I [ATC] > L [CTC]	Coding Sequence Variant
growth hormone receptor isoform 1 precursor	NP_001229335.1:p.Ile544Leu	I (Ile) > L (Leu)	Missense Variant
GHR transcript variant 9	NM_001242406.2:c.1630A>G	I [ATC] > V [GTC]	Coding Sequence Variant
growth hormone receptor isoform 1 precursor	NP_001229335.1:p.Ile544Val	I (Ile) > V (Val)	Missense Variant
GHR transcript variant 1	NM_000163.5:c.1630A>C	I [ATC] > L [CTC]	Coding Sequence Variant
growth hormone receptor isoform 1 precursor	NP_000154.1:p.Ile544Leu	I (Ile) > L (Leu)	Missense Variant
GHR transcript variant 1	NM_000163.5:c.1630A>G	I [ATC] > V [GTC]	Coding Sequence Variant
growth hormone receptor isoform 1 precursor	NP_000154.1:p.Ile544Val	I (Ile) > V (Val)	Missense Variant
GHR transcript variant 4	NM_001242401.4:c.1630A>C	I [ATC] > L [CTC]	Coding Sequence Variant
growth hormone receptor isoform 1 precursor	NP_001229330.1:p.Ile544Leu	I (Ile) > L (Leu)	Missense Variant
GHR transcript variant 4	NM_001242401.4:c.1630A>G	I [ATC] > V [GTC]	Coding Sequence Variant
growth hormone receptor isoform 1 precursor	NP_001229330.1:p.Ile544Val	I (Ile) > V (Val)	Missense Variant
GHR transcript variant 6	NM_001242403.3:c.1630A>C	I [ATC] > L [CTC]	Coding Sequence Variant
growth hormone receptor isoform 1 precursor	NP_001229332.1:p.Ile544Leu	I (Ile) > L (Leu)	Missense Variant
GHR transcript variant 6	NM_001242403.3:c.1630A>G	I [ATC] > V [GTC]	Coding Sequence Variant
growth hormone receptor isoform 1 precursor	NP_001229332.1:p.Ile544Val	I (Ile) > V (Val)	Missense Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: C (allele ID: 23697 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000009190.8	Hypercholesterolemia, familial, 1	Risk-Factor
RCV000173652.7	not specified	Benign
RCV000392579.5	Laron-type isolated somatotropin defect	Benign
RCV001701562.2	Short stature due to partial GHR deficiency	Benign
RCV001719693.4	not provided	Benign

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	A=	C	G
GRCh38.p14 chr 5	NC_000005.10:g.42719137=	NC_000005.10:g.42719137A>C	NC_000005.10:g.42719137A>G
GRCh37.p13 chr 5	NC_000005.9:g.42719239=	NC_000005.9:g.42719239A>C	NC_000005.9:g.42719239A>G
GHR RefSeqGene	NG_011688.2:g.300214=	NG_011688.2:g.300214A>C	NG_011688.2:g.300214A>G
GHR transcript variant 1	NM_000163.5:c.1630=	NM_000163.5:c.1630A>C	NM_000163.5:c.1630A>G
GHR transcript variant 1	NM_000163.4:c.1630=	NM_000163.4:c.1630A>C	NM_000163.4:c.1630A>G
GHR transcript variant 4	NM_001242401.4:c.1630=	NM_001242401.4:c.1630A>C	NM_001242401.4:c.1630A>G
GHR transcript variant 4	NM_001242401.3:c.1630=	NM_001242401.3:c.1630A>C	NM_001242401.3:c.1630A>G
GHR transcript variant 6	NM_001242403.3:c.1630=	NM_001242403.3:c.1630A>C	NM_001242403.3:c.1630A>G
GHR transcript variant 6	NM_001242403.2:c.1630=	NM_001242403.2:c.1630A>C	NM_001242403.2:c.1630A>G
GHR transcript variant 3	NM_001242400.2:c.1630=	NM_001242400.2:c.1630A>C	NM_001242400.2:c.1630A>G
GHR transcript variant 9	NM_001242406.2:c.1630=	NM_001242406.2:c.1630A>C	NM_001242406.2:c.1630A>G
GHR transcript variant 2	NM_001242399.2:c.1651=	NM_001242399.2:c.1651A>C	NM_001242399.2:c.1651A>G
GHR transcript variant 7	NM_001242404.2:c.1630=	NM_001242404.2:c.1630A>C	NM_001242404.2:c.1630A>G
GHR transcript variant 5	NM_001242402.2:c.1630=	NM_001242402.2:c.1630A>C	NM_001242402.2:c.1630A>G
GHR transcript variant 8	NM_001242405.2:c.1630=	NM_001242405.2:c.1630A>C	NM_001242405.2:c.1630A>G
GHR transcript variant 10	NM_001242460.1:c.1564=	NM_001242460.1:c.1564A>C	NM_001242460.1:c.1564A>G
GHR transcript variant 12	NM_001242462.1:c.*672=	NM_001242462.1:c.*672A>C	NM_001242462.1:c.*672A>G
GHR transcript variant 11	NM_001242461.1:c.*710=	NM_001242461.1:c.*710A>C	NM_001242461.1:c.*710A>G
growth hormone receptor isoform 1 precursor	NP_000154.1:p.Ile544=	NP_000154.1:p.Ile544Leu	NP_000154.1:p.Ile544Val
growth hormone receptor isoform 1 precursor	NP_001229330.1:p.Ile544=	NP_001229330.1:p.Ile544Leu	NP_001229330.1:p.Ile544Val
growth hormone receptor isoform 1 precursor	NP_001229332.1:p.Ile544=	NP_001229332.1:p.Ile544Leu	NP_001229332.1:p.Ile544Val
growth hormone receptor isoform 1 precursor	NP_001229329.1:p.Ile544=	NP_001229329.1:p.Ile544Leu	NP_001229329.1:p.Ile544Val
growth hormone receptor isoform 1 precursor	NP_001229335.1:p.Ile544=	NP_001229335.1:p.Ile544Leu	NP_001229335.1:p.Ile544Val
growth hormone receptor isoform 2 precursor	NP_001229328.1:p.Ile551=	NP_001229328.1:p.Ile551Leu	NP_001229328.1:p.Ile551Val
growth hormone receptor isoform 1 precursor	NP_001229333.1:p.Ile544=	NP_001229333.1:p.Ile544Leu	NP_001229333.1:p.Ile544Val
growth hormone receptor isoform 1 precursor	NP_001229331.1:p.Ile544=	NP_001229331.1:p.Ile544Leu	NP_001229331.1:p.Ile544Val
growth hormone receptor isoform 1 precursor	NP_001229334.1:p.Ile544=	NP_001229334.1:p.Ile544Leu	NP_001229334.1:p.Ile544Val
growth hormone receptor isoform 3 precursor	NP_001229389.1:p.Ile522=	NP_001229389.1:p.Ile522Leu	NP_001229389.1:p.Ile522Val

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

198 SubSNP, 28 Frequency, 5 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	WIAF-CSNP	ss7802	Sep 19, 2000 (52)
2	TSC-CSHL	ss2123222	Oct 23, 2000 (88)
3	SC_JCM	ss4186210	Nov 05, 2001 (101)
4	SNP500CANCER	ss6903813	Mar 31, 2003 (113)
5	SSAHASNP	ss22300296	Apr 05, 2004 (121)
6	PERLEGEN	ss24423132	Sep 20, 2004 (123)
7	SEQUENOM	ss24811831	Sep 20, 2004 (123)
8	ABI	ss44667256	Mar 13, 2006 (126)
9	CEPH	ss46525814	Mar 13, 2006 (126)
10	ILLUMINA	ss66622207	Nov 29, 2006 (127)
11	ILLUMINA	ss67447673	Nov 29, 2006 (127)
12	ILLUMINA	ss67798893	Nov 29, 2006 (127)
13	PERLEGEN	ss68933694	May 16, 2007 (127)
14	SHGC	ss70458148	May 17, 2007 (131)
15	ILLUMINA	ss70860936	May 26, 2008 (130)
16	ILLUMINA	ss71448209	May 16, 2007 (127)
17	AFFY	ss74806562	Aug 16, 2007 (128)
18	ILLUMINA	ss75464559	Dec 07, 2007 (129)
19	ILLUMINA	ss79218156	Dec 16, 2007 (130)
20	KRIBB_YJKIM	ss80753430	Dec 16, 2007 (130)
21	KRIBB_YJKIM	ss83347099	Dec 16, 2007 (130)
22	HGSV	ss85592043	Dec 16, 2007 (130)
23	CANCER-GENOME	ss86342955	Mar 23, 2008 (129)
24	BCMHGSC_JDW	ss93077289	Mar 24, 2008 (129)
25	HUMANGENOME_JCVI	ss98716774	Feb 06, 2009 (130)
26	1000GENOMES	ss108997372	Jan 23, 2009 (130)
27	ILLUMINA	ss122524443	Dec 01, 2009 (131)
28	ILLUMINA	ss154355917	Dec 01, 2009 (131)
29	GMI	ss155360266	Dec 01, 2009 (131)
30	ILLUMINA	ss159532184	Dec 01, 2009 (131)
31	SEATTLESEQ	ss159709342	Dec 01, 2009 (131)
32	ILLUMINA	ss160768772	Dec 01, 2009 (131)
33	COMPLETE_GENOMICS	ss162212427	Jul 04, 2010 (132)
34	ILLUMINA	ss172109042	Jul 04, 2010 (132)
35	ILLUMINA	ss173989569	Jul 04, 2010 (132)
36	BUSHMAN	ss200172740	Jul 04, 2010 (132)
37	BCM-HGSC-SUB	ss206986384	Jul 04, 2010 (132)
38	1000GENOMES	ss211623024	Jul 14, 2010 (132)
39	1000GENOMES	ss221649904	Jul 14, 2010 (132)
40	1000GENOMES	ss232922929	Jul 14, 2010 (132)
41	1000GENOMES	ss240101595	Jul 15, 2010 (132)
42	OMICIA	ss244238442	May 27, 2010 (132)
43	ILLUMINA	ss244304578	Jul 04, 2010 (132)
44	BL	ss253407594	May 09, 2011 (134)
45	OMIM-CURATED-RECORDS	ss263194107	Oct 28, 2010 (133)
46	GMI	ss278263180	May 04, 2012 (137)
47	PJP	ss293577040	May 09, 2011 (134)
48	NHLBI-ESP	ss342180685	May 09, 2011 (134)
49	ILLUMINA	ss481226059	May 04, 2012 (137)
50	ILLUMINA	ss481249562	May 04, 2012 (137)
51	ILLUMINA	ss482236081	Sep 08, 2015 (146)
52	ILLUMINA	ss485408323	May 04, 2012 (137)
53	1000GENOMES	ss490902956	May 04, 2012 (137)
54	EXOME_CHIP	ss491366180	May 04, 2012 (137)
55	CLINSEQ_SNP	ss491866637	May 04, 2012 (137)
56	ILLUMINA	ss532796572	Sep 08, 2015 (146)
57	TISHKOFF	ss558356282	Apr 25, 2013 (138)
58	SSMP	ss652212044	Apr 25, 2013 (138)
59	ILLUMINA	ss778566390	Sep 08, 2015 (146)
60	ILLUMINA	ss780836731	Aug 21, 2014 (142)
61	ILLUMINA	ss783149637	Sep 08, 2015 (146)
62	ILLUMINA	ss783519871	Aug 21, 2014 (142)
63	ILLUMINA	ss784105642	Sep 08, 2015 (146)
64	ILLUMINA	ss825548674	Apr 01, 2015 (144)
65	ILLUMINA	ss832408821	Sep 08, 2015 (146)
66	ILLUMINA	ss833043425	Jul 13, 2019 (153)
67	ILLUMINA	ss834023361	Sep 08, 2015 (146)
68	JMKIDD_LAB	ss974455646	Aug 21, 2014 (142)
69	EVA-GONL	ss981495853	Aug 21, 2014 (142)
70	JMKIDD_LAB	ss1067467930	Aug 21, 2014 (142)
71	JMKIDD_LAB	ss1072581269	Aug 21, 2014 (142)
72	1000GENOMES	ss1314832217	Aug 21, 2014 (142)
73	HAMMER_LAB	ss1397411573	Sep 08, 2015 (146)
74	DDI	ss1430322527	Apr 01, 2015 (144)
75	EVA_GENOME_DK	ss1581113086	Apr 01, 2015 (144)
76	EVA_FINRISK	ss1584038609	Apr 01, 2015 (144)
77	EVA_DECODE	ss1591019854	Apr 01, 2015 (144)
78	EVA_UK10K_ALSPAC	ss1612755297	Apr 01, 2015 (144)
79	EVA_UK10K_TWINSUK	ss1655749330	Apr 01, 2015 (144)
80	EVA_EXAC	ss1687801668	Apr 01, 2015 (144)
81	EVA_MGP	ss1711085653	Apr 01, 2015 (144)
82	EVA_SVP	ss1712760418	Apr 01, 2015 (144)
83	ILLUMINA	ss1752575867	Sep 08, 2015 (146)
84	ILLUMINA	ss1752575868	Sep 08, 2015 (146)
85	HAMMER_LAB	ss1803429994	Sep 08, 2015 (146)
86	ILLUMINA	ss1917789538	Feb 12, 2016 (147)
87	WEILL_CORNELL_DGM	ss1924758473	Feb 12, 2016 (147)
88	ILLUMINA	ss1946143119	Feb 12, 2016 (147)
89	ILLUMINA	ss1946143120	Feb 12, 2016 (147)
90	ILLUMINA	ss1958783966	Feb 12, 2016 (147)
91	ILLUMINA	ss1958783967	Feb 12, 2016 (147)
92	GENOMED	ss1970075318	Jul 19, 2016 (147)
93	JJLAB	ss2022982783	Sep 14, 2016 (149)
94	ILLUMINA	ss2094818178	Dec 20, 2016 (150)
95	ILLUMINA	ss2095156217	Dec 20, 2016 (150)
96	USC_VALOUEV	ss2151133865	Dec 20, 2016 (150)
97	HUMAN_LONGEVITY	ss2273257992	Dec 20, 2016 (150)
98	SYSTEMSBIOZJU	ss2625990786	Nov 08, 2017 (151)
99	ILLUMINA	ss2634273302	Nov 08, 2017 (151)
100	ILLUMINA	ss2635143198	Nov 08, 2017 (151)
101	GRF	ss2706672662	Nov 08, 2017 (151)
102	ILLUMINA	ss2711035058	Nov 08, 2017 (151)
103	GNOMAD	ss2734986558	Nov 08, 2017 (151)
104	GNOMAD	ss2747380779	Nov 08, 2017 (151)
105	GNOMAD	ss2823792300	Nov 08, 2017 (151)
106	AFFY	ss2985320498	Nov 08, 2017 (151)
107	AFFY	ss2985951150	Nov 08, 2017 (151)
108	SWEGEN	ss2996814618	Nov 08, 2017 (151)
109	ILLUMINA	ss3022484974	Nov 08, 2017 (151)
110	ILLUMINA	ss3022484975	Nov 08, 2017 (151)
111	EVA_SAMSUNG_MC	ss3023061149	Nov 08, 2017 (151)
112	BIOINF_KMB_FNS_UNIBA	ss3025276681	Nov 08, 2017 (151)
113	CSHL	ss3346357157	Nov 08, 2017 (151)
114	ILLUMINA	ss3625871517	Oct 12, 2018 (152)
115	ILLUMINA	ss3629224557	Oct 12, 2018 (152)
116	ILLUMINA	ss3629224558	Oct 12, 2018 (152)
117	ILLUMINA	ss3632200765	Oct 12, 2018 (152)
118	ILLUMINA	ss3633372646	Oct 12, 2018 (152)
119	ILLUMINA	ss3634093167	Oct 12, 2018 (152)
120	ILLUMINA	ss3634999949	Oct 12, 2018 (152)
121	ILLUMINA	ss3634999950	Oct 12, 2018 (152)
122	ILLUMINA	ss3635775237	Oct 12, 2018 (152)
123	ILLUMINA	ss3636710499	Oct 12, 2018 (152)
124	ILLUMINA	ss3637527837	Oct 12, 2018 (152)
125	ILLUMINA	ss3638550575	Oct 12, 2018 (152)
126	ILLUMINA	ss3639278041	Oct 12, 2018 (152)
127	ILLUMINA	ss3639662073	Oct 12, 2018 (152)
128	ILLUMINA	ss3640707242	Oct 12, 2018 (152)
129	ILLUMINA	ss3640707243	Oct 12, 2018 (152)
130	ILLUMINA	ss3643496787	Oct 12, 2018 (152)
131	ILLUMINA	ss3644876048	Oct 12, 2018 (152)
132	ILLUMINA	ss3644876049	Oct 12, 2018 (152)
133	OMUKHERJEE_ADBS	ss3646318813	Oct 12, 2018 (152)
134	URBANLAB	ss3648042334	Oct 12, 2018 (152)
135	ILLUMINA	ss3652980420	Oct 12, 2018 (152)
136	ILLUMINA	ss3652980421	Oct 12, 2018 (152)
137	ILLUMINA	ss3654093765	Oct 12, 2018 (152)
138	EGCUT_WGS	ss3664712385	Jul 13, 2019 (153)
139	EVA_DECODE	ss3714558592	Jul 13, 2019 (153)
140	ILLUMINA	ss3726229556	Jul 13, 2019 (153)
141	ACPOP	ss3732299156	Jul 13, 2019 (153)
142	ILLUMINA	ss3744252126	Jul 13, 2019 (153)
143	ILLUMINA	ss3744535042	Jul 13, 2019 (153)
144	ILLUMINA	ss3745300134	Jul 13, 2019 (153)
145	ILLUMINA	ss3745300135	Jul 13, 2019 (153)
146	EVA	ss3763352349	Jul 13, 2019 (153)
147	PAGE_CC	ss3771199356	Jul 13, 2019 (153)
148	ILLUMINA	ss3772794380	Jul 13, 2019 (153)
149	ILLUMINA	ss3772794381	Jul 13, 2019 (153)
150	PACBIO	ss3785094374	Jul 13, 2019 (153)
151	PACBIO	ss3790503261	Jul 13, 2019 (153)
152	PACBIO	ss3795379725	Jul 13, 2019 (153)
153	KHV_HUMAN_GENOMES	ss3806527627	Jul 13, 2019 (153)
154	EVA	ss3824081033	Apr 26, 2020 (154)
155	EVA	ss3825522403	Apr 26, 2020 (154)
156	EVA	ss3825538585	Apr 26, 2020 (154)
157	EVA	ss3825672364	Apr 26, 2020 (154)
158	EVA	ss3829216229	Apr 26, 2020 (154)
159	EVA	ss3838078117	Apr 26, 2020 (154)
160	EVA	ss3843517631	Apr 26, 2020 (154)
161	HGDP	ss3847788948	Apr 26, 2020 (154)
162	SGDP_PRJ	ss3861714090	Apr 26, 2020 (154)
163	KRGDB	ss3908196831	Apr 26, 2020 (154)
164	KOGIC	ss3956516443	Apr 26, 2020 (154)
165	FSA-LAB	ss3984305360	Apr 26, 2021 (155)
166	FSA-LAB	ss3984305361	Apr 26, 2021 (155)
167	EVA	ss3985138027	Apr 26, 2021 (155)
168	EVA	ss3986030279	Apr 26, 2021 (155)
169	EVA	ss3986306352	Apr 26, 2021 (155)
170	EVA	ss4017204141	Apr 26, 2021 (155)
171	TOPMED	ss4657580707	Apr 26, 2021 (155)
172	TOMMO_GENOMICS	ss5171426355	Apr 26, 2021 (155)
173	EVA	ss5237012441	Apr 26, 2021 (155)
174	EVA	ss5237185506	Apr 26, 2021 (155)
175	EVA	ss5237643539	Oct 13, 2022 (156)
176	1000G_HIGH_COVERAGE	ss5263704474	Oct 13, 2022 (156)
177	TRAN_CS_UWATERLOO	ss5314412605	Oct 13, 2022 (156)
178	EVA	ss5315048432	Oct 13, 2022 (156)
179	EVA	ss5357137659	Oct 13, 2022 (156)
180	HUGCELL_USP	ss5461954851	Oct 13, 2022 (156)
181	EVA	ss5507999336	Oct 13, 2022 (156)
182	1000G_HIGH_COVERAGE	ss5547196930	Oct 13, 2022 (156)
183	EVA	ss5623931931	Oct 13, 2022 (156)
184	EVA	ss5624146691	Oct 13, 2022 (156)
185	SANFORD_IMAGENETICS	ss5624587958	Oct 13, 2022 (156)
186	SANFORD_IMAGENETICS	ss5637670529	Oct 13, 2022 (156)
187	TOMMO_GENOMICS	ss5707387377	Oct 13, 2022 (156)
188	EVA	ss5800053959	Oct 13, 2022 (156)
189	EVA	ss5800121232	Oct 13, 2022 (156)
190	YY_MCH	ss5806227807	Oct 13, 2022 (156)
191	EVA	ss5834841459	Oct 13, 2022 (156)
192	EVA	ss5848047912	Oct 13, 2022 (156)
193	EVA	ss5848626080	Oct 13, 2022 (156)
194	EVA	ss5854787693	Oct 13, 2022 (156)
195	EVA	ss5893922286	Oct 13, 2022 (156)
196	EVA	ss5936526986	Oct 13, 2022 (156)
197	EVA	ss5966091894	Oct 13, 2022 (156)
198	EVA	ss5980291314	Oct 13, 2022 (156)
199	1000Genomes	NC_000005.9 - 42719239	Oct 12, 2018 (152)
200	1000Genomes_30x	NC_000005.10 - 42719137	Oct 13, 2022 (156)
201	The Avon Longitudinal Study of Parents and Children	NC_000005.9 - 42719239	Oct 12, 2018 (152)
202	Genome-wide autozygosity in Daghestan	NC_000005.8 - 42754996	Apr 26, 2020 (154)
203	Genetic variation in the Estonian population	NC_000005.9 - 42719239	Oct 12, 2018 (152)
204	ExAC	NC_000005.9 - 42719239	Oct 12, 2018 (152)
205	FINRISK	NC_000005.9 - 42719239	Apr 26, 2020 (154)
206	The Danish reference pan genome	NC_000005.9 - 42719239	Apr 26, 2020 (154)
207	gnomAD - Genomes	NC_000005.10 - 42719137	Apr 26, 2021 (155)
208	gnomAD - Exomes	NC_000005.9 - 42719239	Jul 13, 2019 (153)
209	Genome of the Netherlands Release 5	NC_000005.9 - 42719239	Apr 26, 2020 (154)
210	HGDP-CEPH-db Supplement 1	NC_000005.8 - 42754996	Apr 26, 2020 (154)
211	HapMap	NC_000005.10 - 42719137	Apr 26, 2020 (154)
212	KOREAN population from KRGDB	NC_000005.9 - 42719239	Apr 26, 2020 (154)
213	Korean Genome Project	NC_000005.10 - 42719137	Apr 26, 2020 (154)
214	Medical Genome Project healthy controls from Spanish population	NC_000005.9 - 42719239	Apr 26, 2020 (154)
215	Northern Sweden	NC_000005.9 - 42719239	Jul 13, 2019 (153)
216	The PAGE Study	NC_000005.10 - 42719137	Jul 13, 2019 (153)
217	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000005.9 - 42719239	Apr 26, 2021 (155)
218	Qatari	NC_000005.9 - 42719239	Apr 26, 2020 (154)
219	SGDP_PRJ	NC_000005.9 - 42719239	Apr 26, 2020 (154)
220	Siberian	NC_000005.9 - 42719239	Apr 26, 2020 (154)
221	8.3KJPN	NC_000005.9 - 42719239	Apr 26, 2021 (155)
222	14KJPN	NC_000005.10 - 42719137	Oct 13, 2022 (156)
223	TopMed	NC_000005.10 - 42719137	Apr 26, 2021 (155)
224	UK 10K study - Twins	NC_000005.9 - 42719239	Oct 12, 2018 (152)
225	A Vietnamese Genetic Variation Database	NC_000005.9 - 42719239	Jul 13, 2019 (153)
226	ALFA	NC_000005.10 - 42719137	Apr 26, 2021 (155)
227	ClinVar	RCV000009190.8	Oct 13, 2022 (156)
228	ClinVar	RCV000173652.7	Oct 13, 2022 (156)
229	ClinVar	RCV000392579.5	Oct 13, 2022 (156)
230	ClinVar	RCV001701562.2	Oct 13, 2022 (156)
231	ClinVar	RCV001719693.4	Oct 13, 2022 (156)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs17231187	Oct 08, 2004 (123)
rs45523734	Dec 02, 2009 (131)
rs52796340	Sep 21, 2007 (128)
rs61155939	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
386632, 466840, ss85592043, ss93077289, ss108997372, ss162212427, ss200172740, ss206986384, ss211623024, ss253407594, ss278263180, ss293577040, ss481226059, ss491866637, ss825548674, ss1397411573, ss1591019854, ss1712760418, ss2635143198, ss3639278041, ss3639662073, ss3643496787, ss3847788948	NC_000005.8:42754995:A:C	NC_000005.10:42719136:A:C	(self)
26423195, 14695021, 10450633, 7791678, 35070, 7278025, 4105044, 6530679, 15374225, 201413, 5584021, 363954, 6800403, 13731070, 3650219, 29395662, 14695021, 3267010, ss221649904, ss232922929, ss240101595, ss342180685, ss481249562, ss482236081, ss485408323, ss490902956, ss491366180, ss532796572, ss558356282, ss652212044, ss778566390, ss780836731, ss783149637, ss783519871, ss784105642, ss832408821, ss833043425, ss834023361, ss974455646, ss981495853, ss1067467930, ss1072581269, ss1314832217, ss1430322527, ss1581113086, ss1584038609, ss1612755297, ss1655749330, ss1687801668, ss1711085653, ss1752575867, ss1752575868, ss1803429994, ss1917789538, ss1924758473, ss1946143119, ss1946143120, ss1958783966, ss1958783967, ss1970075318, ss2022982783, ss2094818178, ss2095156217, ss2151133865, ss2625990786, ss2634273302, ss2706672662, ss2711035058, ss2734986558, ss2747380779, ss2823792300, ss2985320498, ss2985951150, ss2996814618, ss3022484974, ss3022484975, ss3023061149, ss3346357157, ss3625871517, ss3629224557, ss3629224558, ss3632200765, ss3633372646, ss3634093167, ss3634999949, ss3634999950, ss3635775237, ss3636710499, ss3637527837, ss3638550575, ss3640707242, ss3640707243, ss3644876048, ss3644876049, ss3646318813, ss3652980420, ss3652980421, ss3654093765, ss3664712385, ss3732299156, ss3744252126, ss3744535042, ss3745300134, ss3745300135, ss3763352349, ss3772794380, ss3772794381, ss3785094374, ss3790503261, ss3795379725, ss3824081033, ss3825522403, ss3825538585, ss3825672364, ss3829216229, ss3838078117, ss3861714090, ss3908196831, ss3984305360, ss3984305361, ss3985138027, ss3986030279, ss3986306352, ss4017204141, ss5171426355, ss5315048432, ss5357137659, ss5507999336, ss5623931931, ss5624146691, ss5624587958, ss5637670529, ss5800053959, ss5800121232, ss5834841459, ss5848047912, ss5848626080, ss5936526986, ss5966091894, ss5980291314	NC_000005.9:42719238:A:C	NC_000005.10:42719136:A:C	(self)
RCV000009190.8, RCV000173652.7, RCV000392579.5, RCV001701562.2, RCV001719693.4, 34722865, 186639791, 2856392, 12894444, 420825, 41224481, 494958264, 12276584708, ss244238442, ss263194107, ss2273257992, ss3025276681, ss3648042334, ss3714558592, ss3726229556, ss3771199356, ss3806527627, ss3843517631, ss3956516443, ss4657580707, ss5237012441, ss5237185506, ss5237643539, ss5263704474, ss5314412605, ss5461954851, ss5547196930, ss5707387377, ss5806227807, ss5854787693, ss5893922286	NC_000005.10:42719136:A:C	NC_000005.10:42719136:A:C	(self)
ss22300296	NT_006576.14:25171344:A:C	NC_000005.10:42719136:A:C	(self)
ss7802, ss2123222, ss4186210, ss6903813, ss24423132, ss24811831, ss44667256, ss46525814, ss66622207, ss67447673, ss67798893, ss68933694, ss70458148, ss70860936, ss71448209, ss74806562, ss75464559, ss79218156, ss80753430, ss83347099, ss86342955, ss98716774, ss122524443, ss154355917, ss155360266, ss159532184, ss159709342, ss160768772, ss172109042, ss173989569, ss244304578	NT_006576.16:42709238:A:C	NC_000005.10:42719136:A:C	(self)
15374225, ss3908196831	NC_000005.9:42719238:A:G	NC_000005.10:42719136:A:G	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

13 citations for rs6180

PMID	Title	Author	Year	Journal
12910492	Growth hormone receptor variant (L526I) modifies plasma HDL cholesterol phenotype in familial hypercholesterolemia: intra-familial association study in an eight-generation hyperlipidemic kindred.	Takada D et al.	2003	American journal of medical genetics. Part A
20445798	Chromosome 5p Region SNPs Are Associated with Risk of NSCLC among Women.	Van Dyke AL et al.	2009	Journal of cancer epidemiology
21194676	Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.	Lanktree MB et al.	2011	American journal of human genetics
22695700	The genetic epidemiology of idiopathic scoliosis.	Gorman KF et al.	2012	European spine journal
23820649	Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.	Cooper DN et al.	2013	Human genetics
24086368	An epistatic interaction between the PAX8 and STK17B genes in papillary thyroid cancer susceptibility.	Landa I et al.	2013	PloS one
24664892	The E180splice mutation in the GHR gene causing Laron syndrome: witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?	Gonçalves FT et al.	2014	American journal of medical genetics. Part A
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine
28415752	Correlation between facial morphology and gene polymorphisms in the Uygur youth population.	He H et al.	2017	Oncotarget
29059297	Association analysis between rs6184 and rs6180 polymorphisms of growth hormone receptor gene regarding skeletal-facial profile in a Colombian population.	Tobón-Arroyave SI et al.	2018	European journal of orthodontics
31198387	Assessment of Correlation of Growth Hormone Receptor Gene with Tooth Dimensions: A CBCT and Genotyping Study.	Shinde GR et al.	2019	Journal of pharmacy & bioallied sciences
31884074	Circulating Levels of Insulin-like Growth Factor 1 and Insulin-like Growth Factor Binding Protein 3 Associate With Risk of Colorectal Cancer Based on Serologic and Mendelian Randomization Analyses.	Murphy N et al.	2020	Gastroenterology
34863024	Genetic effect of single nucleotide polymorphisms in growth hormone receptor gene on the risk of non-syndromic mandibular prognathism in the Korean population.	Park HJ et al.	2022	Orthodontics & craniofacial research

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs6180