Name: rs80346167
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.

rs80346167

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:74586373 (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: G>A / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.069114 (9684/140116, GnomAD)
A=0.16990 (4801/28258, 14KJPN)
A=0.03036 (545/17950, ALFA) (+ 14 more)
A=0.17234 (2888/16758, 8.3KJPN)
A=0.1112 (712/6404, 1000G_30x)
A=0.1142 (572/5008, 1000G)
A=0.0454 (175/3854, ALSPAC)
A=0.0566 (210/3708, TWINSUK)
A=0.2212 (648/2930, KOREAN)
A=0.2129 (390/1832, Korea1K)
A=0.040 (40/998, GoNL)
A=0.127 (76/600, NorthernSweden)
A=0.004 (2/534, MGP)
A=0.060 (13/216, Qatari)
A=0.290 (62/214, Vietnamese)
G=0.403 (58/144, SGDP_PRJ)
G=0.40 (8/20, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: GTF2IRD1 : Intron Variant
Publications: 2 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	17950	G=0.96964	A=0.03036, T=0.00000	0.941504	0.002228	0.056267	10
European	Sub	13686	G=0.96478	A=0.03522, T=0.00000	0.931901	0.002338	0.065761	4
African	Sub	2686	G=0.9840	A=0.0160, T=0.0000	0.970216	0.002234	0.02755	12
African Others	Sub	100	G=0.98	A=0.02, T=0.00	0.96	0.0	0.04	0
African American	Sub	2586	G=0.9841	A=0.0159, T=0.0000	0.970611	0.00232	0.027069	13
Asian	Sub	60	G=0.97	A=0.03, T=0.00	0.966667	0.033333	0.0	16
East Asian	Sub	46	G=1.00	A=0.00, T=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	14	G=0.86	A=0.14, T=0.00	0.857143	0.142857	0.0	4
Latin American 1	Sub	136	G=1.000	A=0.000, T=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	440	G=0.998	A=0.002, T=0.000	0.995455	0.0	0.004545	0
South Asian	Sub	86	G=1.00	A=0.00, T=0.00	1.0	0.0	0.0	N/A
Other	Sub	856	G=0.980	A=0.020, T=0.000	0.96028	0.0	0.03972	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
gnomAD - Genomes	Global	Study-wide	140116	G=0.930886	A=0.069114
gnomAD - Genomes	European	Sub	75904	G=0.94738	A=0.05262
gnomAD - Genomes	African	Sub	42012	G=0.93285	A=0.06715
gnomAD - Genomes	American	Sub	13610	G=0.87884	A=0.12116
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=0.8895	A=0.1105
gnomAD - Genomes	East Asian	Sub	3118	G=0.7736	A=0.2264
gnomAD - Genomes	Other	Sub	2150	G=0.9316	A=0.0684
14KJPN	JAPANESE	Study-wide	28258	G=0.83010	A=0.16990
Allele Frequency Aggregator	Total	Global	17950	G=0.96964	A=0.03036, T=0.00000
Allele Frequency Aggregator	European	Sub	13686	G=0.96478	A=0.03522, T=0.00000
Allele Frequency Aggregator	African	Sub	2686	G=0.9840	A=0.0160, T=0.0000
Allele Frequency Aggregator	Other	Sub	856	G=0.980	A=0.020, T=0.000
Allele Frequency Aggregator	Latin American 2	Sub	440	G=0.998	A=0.002, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	136	G=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	South Asian	Sub	86	G=1.00	A=0.00, T=0.00
Allele Frequency Aggregator	Asian	Sub	60	G=0.97	A=0.03, T=0.00
8.3KJPN	JAPANESE	Study-wide	16758	G=0.82766	A=0.17234
1000Genomes_30x	Global	Study-wide	6404	G=0.8888	A=0.1112
1000Genomes_30x	African	Sub	1786	G=0.9099	A=0.0901
1000Genomes_30x	Europe	Sub	1266	G=0.9550	A=0.0450
1000Genomes_30x	South Asian	Sub	1202	G=0.8918	A=0.1082
1000Genomes_30x	East Asian	Sub	1170	G=0.7915	A=0.2085
1000Genomes_30x	American	Sub	980	G=0.878	A=0.122
1000Genomes	Global	Study-wide	5008	G=0.8858	A=0.1142
1000Genomes	African	Sub	1322	G=0.9092	A=0.0908
1000Genomes	East Asian	Sub	1008	G=0.7907	A=0.2093
1000Genomes	Europe	Sub	1006	G=0.9513	A=0.0487
1000Genomes	South Asian	Sub	978	G=0.893	A=0.107
1000Genomes	American	Sub	694	G=0.875	A=0.125
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9546	A=0.0454
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.9434	A=0.0566
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.7788	A=0.2212
Korean Genome Project	KOREAN	Study-wide	1832	G=0.7871	A=0.2129
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.960	A=0.040
Northern Sweden	ACPOP	Study-wide	600	G=0.873	A=0.127
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.996	A=0.004
Qatari	Global	Study-wide	216	G=0.940	A=0.060
A Vietnamese Genetic Variation Database	Global	Study-wide	214	G=0.710	A=0.290
SGDP_PRJ	Global	Study-wide	144	G=0.403	A=0.597
Siberian	Global	Study-wide	20	G=0.40	A=0.60

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 7	NC_000007.14:g.74586373G>A
GRCh38.p14 chr 7	NC_000007.14:g.74586373G>T
GRCh37.p13 chr 7 fix patch HG1257_PATCH	NW_003871064.1:g.2115609G>A
GRCh37.p13 chr 7 fix patch HG1257_PATCH	NW_003871064.1:g.2115609G>T
GTF2IRD1 RefSeqGene	NG_027954.2:g.137469G>A
GTF2IRD1 RefSeqGene	NG_027954.2:g.137469G>T
GTF2IRD1 RefSeqGene	NG_027954.1:g.137583G>A
GTF2IRD1 RefSeqGene	NG_027954.1:g.137583G>T
GRCh37.p13 chr 7	NC_000007.13:g.74000702G>A
GRCh37.p13 chr 7	NC_000007.13:g.74000702G>T

Gene: GTF2IRD1, GTF2I repeat domain containing 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
GTF2IRD1 transcript variant 3	NM_001199207.2:c.2417-347… NM_001199207.2:c.2417-3478G>A	N/A	Intron Variant
GTF2IRD1 transcript variant 2	NM_005685.4:c.2321-3478G>A	N/A	Intron Variant
GTF2IRD1 transcript variant 1	NM_016328.3:c.2366-3478G>A	N/A	Intron Variant
GTF2IRD1 transcript variant X8	XM_006716182.4:c.2321-347… XM_006716182.4:c.2321-3478G>A	N/A	Intron Variant
GTF2IRD1 transcript variant X9	XM_006716183.4:c.2321-347… XM_006716183.4:c.2321-3478G>A	N/A	Intron Variant
GTF2IRD1 transcript variant X16	XM_011516713.2:c.2264-347… XM_011516713.2:c.2264-3478G>A	N/A	Intron Variant
GTF2IRD1 transcript variant X5	XM_017012802.2:c.2366-347… XM_017012802.2:c.2366-3478G>A	N/A	Intron Variant
GTF2IRD1 transcript variant X12	XM_017012804.2:c.2321-347… XM_017012804.2:c.2321-3478G>A	N/A	Intron Variant
GTF2IRD1 transcript variant X14	XM_017012805.2:c.2264-347… XM_017012805.2:c.2264-3478G>A	N/A	Intron Variant
GTF2IRD1 transcript variant X1	XM_047421056.1:c.2462-347… XM_047421056.1:c.2462-3478G>A	N/A	Intron Variant
GTF2IRD1 transcript variant X2	XM_047421057.1:c.2417-347… XM_047421057.1:c.2417-3478G>A	N/A	Intron Variant
GTF2IRD1 transcript variant X3	XM_047421058.1:c.2462-347… XM_047421058.1:c.2462-3478G>A	N/A	Intron Variant
GTF2IRD1 transcript variant X4	XM_047421059.1:c.2462-347… XM_047421059.1:c.2462-3478G>A	N/A	Intron Variant
GTF2IRD1 transcript variant X6	XM_047421060.1:c.2366-347… XM_047421060.1:c.2366-3478G>A	N/A	Intron Variant
GTF2IRD1 transcript variant X7	XM_047421061.1:c.2360-347… XM_047421061.1:c.2360-3478G>A	N/A	Intron Variant
GTF2IRD1 transcript variant X9	XM_047421062.1:c.2366-347… XM_047421062.1:c.2366-3478G>A	N/A	Intron Variant
GTF2IRD1 transcript variant X10	XM_047421063.1:c.2366-347… XM_047421063.1:c.2366-3478G>A	N/A	Intron Variant
GTF2IRD1 transcript variant X11	XM_047421064.1:c.2360-347… XM_047421064.1:c.2360-3478G>A	N/A	Intron Variant
GTF2IRD1 transcript variant X13	XM_047421065.1:c.2321-347… XM_047421065.1:c.2321-3478G>A	N/A	Intron Variant
GTF2IRD1 transcript variant X15	XM_047421066.1:c.2264-347… XM_047421066.1:c.2264-3478G>A	N/A	Intron 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.

Not Reported in ClinVar

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	G=	A	T
GRCh38.p14 chr 7	NC_000007.14:g.74586373=	NC_000007.14:g.74586373G>A	NC_000007.14:g.74586373G>T
GRCh37.p13 chr 7 fix patch HG1257_PATCH	NW_003871064.1:g.2115609=	NW_003871064.1:g.2115609G>A	NW_003871064.1:g.2115609G>T
GTF2IRD1 RefSeqGene	NG_027954.2:g.137469=	NG_027954.2:g.137469G>A	NG_027954.2:g.137469G>T
GTF2IRD1 RefSeqGene	NG_027954.1:g.137583=	NG_027954.1:g.137583G>A	NG_027954.1:g.137583G>T
GRCh37.p13 chr 7	NC_000007.13:g.74000702=	NC_000007.13:g.74000702G>A	NC_000007.13:g.74000702G>T
GTF2IRD1 transcript variant 3	NM_001199207.1:c.2417-3478=	NM_001199207.1:c.2417-3478G>A	NM_001199207.1:c.2417-3478G>T
GTF2IRD1 transcript variant 3	NM_001199207.2:c.2417-3478=	NM_001199207.2:c.2417-3478G>A	NM_001199207.2:c.2417-3478G>T
GTF2IRD1 transcript variant 2	NM_005685.3:c.2321-3478=	NM_005685.3:c.2321-3478G>A	NM_005685.3:c.2321-3478G>T
GTF2IRD1 transcript variant 2	NM_005685.4:c.2321-3478=	NM_005685.4:c.2321-3478G>A	NM_005685.4:c.2321-3478G>T
GTF2IRD1 transcript variant 1	NM_016328.2:c.2366-3478=	NM_016328.2:c.2366-3478G>A	NM_016328.2:c.2366-3478G>T
GTF2IRD1 transcript variant 1	NM_016328.3:c.2366-3478=	NM_016328.3:c.2366-3478G>A	NM_016328.3:c.2366-3478G>T
GTF2IRD1 transcript variant X1	XM_005250720.1:c.2321-3478=	XM_005250720.1:c.2321-3478G>A	XM_005250720.1:c.2321-3478G>T
GTF2IRD1 transcript variant X4	XM_005250723.1:c.1403-3478=	XM_005250723.1:c.1403-3478G>A	XM_005250723.1:c.1403-3478G>T
GTF2IRD1 transcript variant X1	XM_005277614.1:c.2321-3478=	XM_005277614.1:c.2321-3478G>A	XM_005277614.1:c.2321-3478G>T
GTF2IRD1 transcript variant X4	XM_005277617.1:c.1403-3478=	XM_005277617.1:c.1403-3478G>A	XM_005277617.1:c.1403-3478G>T
GTF2IRD1 transcript variant X8	XM_006716182.4:c.2321-3478=	XM_006716182.4:c.2321-3478G>A	XM_006716182.4:c.2321-3478G>T
GTF2IRD1 transcript variant X9	XM_006716183.4:c.2321-3478=	XM_006716183.4:c.2321-3478G>A	XM_006716183.4:c.2321-3478G>T
GTF2IRD1 transcript variant X16	XM_011516713.2:c.2264-3478=	XM_011516713.2:c.2264-3478G>A	XM_011516713.2:c.2264-3478G>T
GTF2IRD1 transcript variant X5	XM_017012802.2:c.2366-3478=	XM_017012802.2:c.2366-3478G>A	XM_017012802.2:c.2366-3478G>T
GTF2IRD1 transcript variant X12	XM_017012804.2:c.2321-3478=	XM_017012804.2:c.2321-3478G>A	XM_017012804.2:c.2321-3478G>T
GTF2IRD1 transcript variant X14	XM_017012805.2:c.2264-3478=	XM_017012805.2:c.2264-3478G>A	XM_017012805.2:c.2264-3478G>T
GTF2IRD1 transcript variant X1	XM_047421056.1:c.2462-3478=	XM_047421056.1:c.2462-3478G>A	XM_047421056.1:c.2462-3478G>T
GTF2IRD1 transcript variant X2	XM_047421057.1:c.2417-3478=	XM_047421057.1:c.2417-3478G>A	XM_047421057.1:c.2417-3478G>T
GTF2IRD1 transcript variant X3	XM_047421058.1:c.2462-3478=	XM_047421058.1:c.2462-3478G>A	XM_047421058.1:c.2462-3478G>T
GTF2IRD1 transcript variant X4	XM_047421059.1:c.2462-3478=	XM_047421059.1:c.2462-3478G>A	XM_047421059.1:c.2462-3478G>T
GTF2IRD1 transcript variant X6	XM_047421060.1:c.2366-3478=	XM_047421060.1:c.2366-3478G>A	XM_047421060.1:c.2366-3478G>T
GTF2IRD1 transcript variant X7	XM_047421061.1:c.2360-3478=	XM_047421061.1:c.2360-3478G>A	XM_047421061.1:c.2360-3478G>T
GTF2IRD1 transcript variant X9	XM_047421062.1:c.2366-3478=	XM_047421062.1:c.2366-3478G>A	XM_047421062.1:c.2366-3478G>T
GTF2IRD1 transcript variant X10	XM_047421063.1:c.2366-3478=	XM_047421063.1:c.2366-3478G>A	XM_047421063.1:c.2366-3478G>T
GTF2IRD1 transcript variant X11	XM_047421064.1:c.2360-3478=	XM_047421064.1:c.2360-3478G>A	XM_047421064.1:c.2360-3478G>T
GTF2IRD1 transcript variant X13	XM_047421065.1:c.2321-3478=	XM_047421065.1:c.2321-3478G>A	XM_047421065.1:c.2321-3478G>T
GTF2IRD1 transcript variant X15	XM_047421066.1:c.2264-3478=	XM_047421066.1:c.2264-3478G>A	XM_047421066.1:c.2264-3478G>T

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#.

44 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	1000GENOMES	ss223143103	Jul 14, 2010 (132)
2	1000GENOMES	ss240975241	Jul 15, 2010 (132)
3	GMI	ss279390076	May 04, 2012 (137)
4	ILLUMINA	ss536122386	Sep 11, 2015 (146)
5	TISHKOFF	ss560082030	Apr 25, 2013 (138)
6	SSMP	ss654472177	Apr 25, 2013 (138)
7	EVA-GONL	ss984416673	Apr 09, 2015 (144)
8	JMKIDD_LAB	ss1074704979	Apr 09, 2015 (144)
9	1000GENOMES	ss1325671438	Aug 28, 2014 (142)
10	EVA_DECODE	ss1593989991	Apr 01, 2015 (144)
11	EVA_UK10K_ALSPAC	ss1618461857	Apr 09, 2015 (144)
12	EVA_UK10K_TWINSUK	ss1661455890	Apr 09, 2015 (144)
13	EVA_MGP	ss1711168524	Apr 09, 2015 (144)
14	HAMMER_LAB	ss1805061436	Sep 11, 2015 (146)
15	WEILL_CORNELL_DGM	ss1927674244	Feb 17, 2016 (147)
16	GENOMED	ss1970732431	Sep 28, 2016 (149)
17	JJLAB	ss2024520669	Sep 28, 2016 (149)
18	USC_VALOUEV	ss2152739004	Oct 12, 2018 (152)
19	GRF	ss2708435998	Oct 12, 2018 (152)
20	GNOMAD	ss2854783263	Oct 12, 2018 (152)
21	SWEGEN	ss3001426341	Oct 12, 2018 (152)
22	CSHL	ss3347675166	Oct 12, 2018 (152)
23	ILLUMINA	ss3629839717	Oct 12, 2018 (152)
24	EVA_DECODE	ss3719976540	Jul 13, 2019 (153)
25	ACPOP	ss3734756708	Jul 13, 2019 (153)
26	EVA	ss3766727189	Jul 13, 2019 (153)
27	KHV_HUMAN_GENOMES	ss3809894326	Jul 13, 2019 (153)
28	SGDP_PRJ	ss3867611194	Apr 26, 2020 (154)
29	KRGDB	ss3914855516	Apr 26, 2020 (154)
30	KOGIC	ss3961855781	Apr 26, 2020 (154)
31	GNOMAD	ss4166221552	Apr 26, 2021 (155)
32	TOPMED	ss4750591574	Apr 26, 2021 (155)
33	TOPMED	ss4750591575	Apr 26, 2021 (155)
34	TOMMO_GENOMICS	ss5183865135	Apr 26, 2021 (155)
35	1000G_HIGH_COVERAGE	ss5273431800	Oct 16, 2022 (156)
36	HUGCELL_USP	ss5470476315	Oct 16, 2022 (156)
37	1000G_HIGH_COVERAGE	ss5561888643	Oct 16, 2022 (156)
38	SANFORD_IMAGENETICS	ss5643246255	Oct 16, 2022 (156)
39	TOMMO_GENOMICS	ss5724340118	Oct 16, 2022 (156)
40	YY_MCH	ss5808775459	Oct 16, 2022 (156)
41	EVA	ss5823027829	Oct 16, 2022 (156)
42	EVA	ss5855953545	Oct 16, 2022 (156)
43	EVA	ss5859431869	Oct 16, 2022 (156)
44	EVA	ss5972429769	Oct 16, 2022 (156)
45	1000Genomes	NC_000007.13 - 74000702	Oct 12, 2018 (152)
46	1000Genomes_30x	NC_000007.14 - 74586373	Oct 16, 2022 (156)
47	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 74000702	Oct 12, 2018 (152)
48	gnomAD - Genomes	NC_000007.14 - 74586373	Apr 26, 2021 (155)
49	Genome of the Netherlands Release 5	NC_000007.13 - 74000702	Apr 26, 2020 (154)
50	KOREAN population from KRGDB	NC_000007.13 - 74000702	Apr 26, 2020 (154)
51	Korean Genome Project	NC_000007.14 - 74586373	Apr 26, 2020 (154)
52	Medical Genome Project healthy controls from Spanish population	NC_000007.13 - 74000702	Apr 26, 2020 (154)
53	Northern Sweden	NC_000007.13 - 74000702	Jul 13, 2019 (153)
54	Qatari	NC_000007.13 - 74000702	Apr 26, 2020 (154)
55	SGDP_PRJ	NC_000007.13 - 74000702	Apr 26, 2020 (154)
56	Siberian	NC_000007.13 - 74000702	Apr 26, 2020 (154)
57	8.3KJPN	NC_000007.13 - 74000702	Apr 26, 2021 (155)
58	14KJPN	NC_000007.14 - 74586373	Oct 16, 2022 (156)
59	TopMed Submission ignored due to conflicting rows: Row 587969133 (NC_000007.14:74586372:G:A 19478/264690) Row 587969134 (NC_000007.14:74586372:G:T 1/264690)	-	Apr 26, 2021 (155)
60	TopMed Submission ignored due to conflicting rows: Row 587969133 (NC_000007.14:74586372:G:A 19478/264690) Row 587969134 (NC_000007.14:74586372:G:T 1/264690)	-	Apr 26, 2021 (155)
61	UK 10K study - Twins	NC_000007.13 - 74000702	Oct 12, 2018 (152)
62	A Vietnamese Genetic Variation Database	NC_000007.13 - 74000702	Jul 13, 2019 (153)
63	ALFA	NC_000007.14 - 74586373	Apr 26, 2021 (155)

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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss279390076, ss1593989991	NC_000007.12:73638637:G:A	NC_000007.14:74586372:G:A	(self)
37659807, 20967542, 9359891, 22032910, 284284, 8041573, 9716174, 19628174, 5255358, 41834442, 20967542, 4673142, ss223143103, ss240975241, ss536122386, ss560082030, ss654472177, ss984416673, ss1074704979, ss1325671438, ss1618461857, ss1661455890, ss1711168524, ss1805061436, ss1927674244, ss1970732431, ss2024520669, ss2152739004, ss2708435998, ss2854783263, ss3001426341, ss3347675166, ss3629839717, ss3734756708, ss3766727189, ss3867611194, ss3914855516, ss5183865135, ss5643246255, ss5823027829, ss5972429769	NC_000007.13:74000701:G:A	NC_000007.14:74586372:G:A	(self)
49414578, 265598094, 18233782, 58177222, 4415329670, ss3719976540, ss3809894326, ss3961855781, ss4166221552, ss4750591574, ss5273431800, ss5470476315, ss5561888643, ss5724340118, ss5808775459, ss5855953545, ss5859431869	NC_000007.14:74586372:G:A	NC_000007.14:74586372:G:A	(self)
4415329670, ss4750591575	NC_000007.14:74586372:G:T	NC_000007.14:74586372:G:T	(self)

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

2 citations for rs80346167

PMID	Title	Author	Year	Journal
26808113	High-density genotyping of immune-related loci identifies new SLE risk variants in individuals with Asian ancestry.	Sun C et al.	2016	Nature genetics
31705128	Association of NCF1 polymorphism with systemic lupus erythematosus and systemic sclerosis but not with ANCA-associated vasculitis in a Japanese population.	Yokoyama N et al.	2019	Scientific reports

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
Top▲ Help
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.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs80346167