Name: rs2460382
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.

rs2460382

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:134256545 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.239922 (63505/264690, TOPMED)
G=0.233338 (32622/139806, GnomAD)
G=0.251333 (28384/112934, ALFA) (+ 18 more)
G=0.23865 (18768/78644, PAGE_STUDY)
G=0.22636 (6396/28256, 14KJPN)
G=0.22667 (3799/16760, 8.3KJPN)
G=0.2448 (1568/6404, 1000G_30x)
G=0.2442 (1223/5008, 1000G)
G=0.2549 (1142/4480, Estonian)
G=0.2322 (895/3854, ALSPAC)
G=0.2371 (879/3708, TWINSUK)
G=0.2577 (755/2930, KOREAN)
G=0.2072 (392/1892, HapMap)
G=0.2434 (446/1832, Korea1K)
G=0.205 (205/998, GoNL)
G=0.263 (208/792, PRJEB37584)
G=0.183 (110/600, NorthernSweden)
G=0.159 (86/542, SGDP_PRJ)
G=0.199 (43/216, Qatari)
G=0.11 (6/54, Siberian)
G=0.23 (9/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: MGAT5 : Intron Variant
Publications: 0 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	117968	G=0.250186	A=0.749814	0.063305	0.562932	0.373762	1
European	Sub	98196	G=0.25349	A=0.74651	0.064015	0.557029	0.378956	0
African	Sub	7214	G=0.2042	A=0.7958	0.04214	0.633768	0.324092	0
African Others	Sub	256	G=0.203	A=0.797	0.054688	0.648438	0.296875	1
African American	Sub	6958	G=0.2042	A=0.7958	0.041679	0.633228	0.325093	0
Asian	Sub	442	G=0.285	A=0.715	0.085973	0.515837	0.39819	0
East Asian	Sub	312	G=0.282	A=0.718	0.076923	0.512821	0.410256	0
Other Asian	Sub	130	G=0.292	A=0.708	0.107692	0.523077	0.369231	0
Latin American 1	Sub	768	G=0.293	A=0.707	0.09375	0.507812	0.398438	0
Latin American 2	Sub	4092	G=0.2766	A=0.7234	0.085533	0.532258	0.382209	3
South Asian	Sub	168	G=0.196	A=0.804	0.011905	0.619048	0.369048	2
Other	Sub	7088	G=0.2304	A=0.7696	0.058691	0.597912	0.343397	2

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
TopMed	Global	Study-wide	264690	G=0.239922	A=0.760078
gnomAD - Genomes	Global	Study-wide	139806	G=0.233338	A=0.766662
gnomAD - Genomes	European	Sub	75722	G=0.23726	A=0.76274
gnomAD - Genomes	African	Sub	41870	G=0.20155	A=0.79845
gnomAD - Genomes	American	Sub	13630	G=0.28716	A=0.71284
gnomAD - Genomes	Ashkenazi Jewish	Sub	3316	G=0.2910	A=0.7090
gnomAD - Genomes	East Asian	Sub	3118	G=0.2527	A=0.7473
gnomAD - Genomes	Other	Sub	2150	G=0.2558	A=0.7442
Allele Frequency Aggregator	Total	Global	112934	G=0.251333	A=0.748667
Allele Frequency Aggregator	European	Sub	95104	G=0.25433	A=0.74567
Allele Frequency Aggregator	Other	Sub	6288	G=0.2281	A=0.7719
Allele Frequency Aggregator	African	Sub	6072	G=0.2052	A=0.7948
Allele Frequency Aggregator	Latin American 2	Sub	4092	G=0.2766	A=0.7234
Allele Frequency Aggregator	Latin American 1	Sub	768	G=0.293	A=0.707
Allele Frequency Aggregator	Asian	Sub	442	G=0.285	A=0.715
Allele Frequency Aggregator	South Asian	Sub	168	G=0.196	A=0.804
The PAGE Study	Global	Study-wide	78644	G=0.23865	A=0.76135
The PAGE Study	AfricanAmerican	Sub	32484	G=0.20250	A=0.79750
The PAGE Study	Mexican	Sub	10802	G=0.26338	A=0.73662
The PAGE Study	Asian	Sub	8316	G=0.2262	A=0.7738
The PAGE Study	PuertoRican	Sub	7912	G=0.2743	A=0.7257
The PAGE Study	NativeHawaiian	Sub	4532	G=0.2807	A=0.7193
The PAGE Study	Cuban	Sub	4230	G=0.2979	A=0.7021
The PAGE Study	Dominican	Sub	3828	G=0.2299	A=0.7701
The PAGE Study	CentralAmerican	Sub	2448	G=0.2958	A=0.7042
The PAGE Study	SouthAmerican	Sub	1978	G=0.3438	A=0.6562
The PAGE Study	NativeAmerican	Sub	1258	G=0.2107	A=0.7893
The PAGE Study	SouthAsian	Sub	856	G=0.249	A=0.751
14KJPN	JAPANESE	Study-wide	28256	G=0.22636	A=0.77364
8.3KJPN	JAPANESE	Study-wide	16760	G=0.22667	A=0.77333
1000Genomes_30x	Global	Study-wide	6404	G=0.2448	A=0.7552
1000Genomes_30x	African	Sub	1786	G=0.2178	A=0.7822
1000Genomes_30x	Europe	Sub	1266	G=0.2464	A=0.7536
1000Genomes_30x	South Asian	Sub	1202	G=0.2363	A=0.7637
1000Genomes_30x	East Asian	Sub	1170	G=0.2291	A=0.7709
1000Genomes_30x	American	Sub	980	G=0.321	A=0.679
1000Genomes	Global	Study-wide	5008	G=0.2442	A=0.7558
1000Genomes	African	Sub	1322	G=0.2126	A=0.7874
1000Genomes	East Asian	Sub	1008	G=0.2222	A=0.7778
1000Genomes	Europe	Sub	1006	G=0.2535	A=0.7465
1000Genomes	South Asian	Sub	978	G=0.239	A=0.761
1000Genomes	American	Sub	694	G=0.330	A=0.670
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.2549	A=0.7451
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.2322	A=0.7678
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.2371	A=0.7629
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.2577	A=0.7423
HapMap	Global	Study-wide	1892	G=0.2072	A=0.7928
HapMap	American	Sub	770	G=0.227	A=0.773
HapMap	African	Sub	692	G=0.136	A=0.864
HapMap	Asian	Sub	254	G=0.240	A=0.760
HapMap	Europe	Sub	176	G=0.352	A=0.648
Korean Genome Project	KOREAN	Study-wide	1832	G=0.2434	A=0.7566
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.205	A=0.795
CNV burdens in cranial meningiomas	Global	Study-wide	792	G=0.263	A=0.737
CNV burdens in cranial meningiomas	CRM	Sub	792	G=0.263	A=0.737
Northern Sweden	ACPOP	Study-wide	600	G=0.183	A=0.817
SGDP_PRJ	Global	Study-wide	542	G=0.159	A=0.841
Qatari	Global	Study-wide	216	G=0.199	A=0.801
Siberian	Global	Study-wide	54	G=0.11	A=0.89
The Danish reference pan genome	Danish	Study-wide	40	G=0.23	A=0.78

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 2	NC_000002.12:g.134256545G>A
GRCh37.p13 chr 2	NC_000002.11:g.135014116G>A
MGAT5 RefSeqGene	NG_030324.1:g.7287G>A

Gene: MGAT5, alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MGAT5 transcript variant 1	NM_001371457.1:c.241+1901… NM_001371457.1:c.241+1901G>A	N/A	Intron Variant
MGAT5 transcript variant 2	NM_002410.5:c.241+1901G>A	N/A	Intron Variant
MGAT5 transcript variant X5	XM_005263669.6:c.241+1901… XM_005263669.6:c.241+1901G>A	N/A	Intron Variant
MGAT5 transcript variant X10	XM_006712534.4:c.241+1901… XM_006712534.4:c.241+1901G>A	N/A	Intron Variant
MGAT5 transcript variant X12	XM_011511199.3:c.241+1901… XM_011511199.3:c.241+1901G>A	N/A	Intron Variant
MGAT5 transcript variant X15	XM_011511201.3:c.241+1901… XM_011511201.3:c.241+1901G>A	N/A	Intron Variant
MGAT5 transcript variant X19	XM_011511202.3:c.241+1901… XM_011511202.3:c.241+1901G>A	N/A	Intron Variant
MGAT5 transcript variant X1	XM_017004147.3:c.241+1901… XM_017004147.3:c.241+1901G>A	N/A	Intron Variant
MGAT5 transcript variant X17	XM_017004148.2:c.241+1901… XM_017004148.2:c.241+1901G>A	N/A	Intron Variant
MGAT5 transcript variant X21	XM_017004149.2:c.241+1901… XM_017004149.2:c.241+1901G>A	N/A	Intron Variant
MGAT5 transcript variant X2	XM_047444394.1:c.241+1901… XM_047444394.1:c.241+1901G>A	N/A	Intron Variant
MGAT5 transcript variant X3	XM_047444395.1:c.241+1901… XM_047444395.1:c.241+1901G>A	N/A	Intron Variant
MGAT5 transcript variant X4	XM_047444396.1:c.241+1901… XM_047444396.1:c.241+1901G>A	N/A	Intron Variant
MGAT5 transcript variant X6	XM_047444397.1:c.241+1901… XM_047444397.1:c.241+1901G>A	N/A	Intron Variant
MGAT5 transcript variant X7	XM_047444398.1:c.241+1901… XM_047444398.1:c.241+1901G>A	N/A	Intron Variant
MGAT5 transcript variant X8	XM_047444399.1:c.241+1901… XM_047444399.1:c.241+1901G>A	N/A	Intron Variant
MGAT5 transcript variant X9	XM_047444400.1:c.241+1901… XM_047444400.1:c.241+1901G>A	N/A	Intron Variant
MGAT5 transcript variant X11	XM_047444401.1:c.241+1901… XM_047444401.1:c.241+1901G>A	N/A	Intron Variant
MGAT5 transcript variant X13	XM_047444402.1:c.241+1901… XM_047444402.1:c.241+1901G>A	N/A	Intron Variant
MGAT5 transcript variant X14	XM_047444403.1:c.241+1901… XM_047444403.1:c.241+1901G>A	N/A	Intron Variant
MGAT5 transcript variant X16	XM_047444404.1:c.241+1901… XM_047444404.1:c.241+1901G>A	N/A	Intron Variant
MGAT5 transcript variant X18	XM_047444405.1:c.241+1901… XM_047444405.1:c.241+1901G>A	N/A	Intron Variant
MGAT5 transcript variant X20	XM_047444406.1:c.241+1901… XM_047444406.1:c.241+1901G>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
GRCh38.p14 chr 2	NC_000002.12:g.134256545=	NC_000002.12:g.134256545G>A
GRCh37.p13 chr 2	NC_000002.11:g.135014116=	NC_000002.11:g.135014116G>A
MGAT5 RefSeqGene	NG_030324.1:g.7287=	NG_030324.1:g.7287G>A
MGAT5 transcript variant 1	NM_001371457.1:c.241+1901=	NM_001371457.1:c.241+1901G>A
MGAT5 transcript	NM_002410.4:c.241+1901=	NM_002410.4:c.241+1901G>A
MGAT5 transcript variant 2	NM_002410.5:c.241+1901=	NM_002410.5:c.241+1901G>A
MGAT5 transcript variant X1	XM_005263664.1:c.241+1901=	XM_005263664.1:c.241+1901G>A
MGAT5 transcript variant X2	XM_005263665.1:c.241+1901=	XM_005263665.1:c.241+1901G>A
MGAT5 transcript variant X3	XM_005263666.1:c.241+1901=	XM_005263666.1:c.241+1901G>A
MGAT5 transcript variant X4	XM_005263667.1:c.241+1901=	XM_005263667.1:c.241+1901G>A
MGAT5 transcript variant X5	XM_005263668.1:c.241+1901=	XM_005263668.1:c.241+1901G>A
MGAT5 transcript variant X6	XM_005263669.1:c.241+1901=	XM_005263669.1:c.241+1901G>A
MGAT5 transcript variant X5	XM_005263669.6:c.241+1901=	XM_005263669.6:c.241+1901G>A
MGAT5 transcript variant X7	XM_005263670.1:c.241+1901=	XM_005263670.1:c.241+1901G>A
MGAT5 transcript variant X10	XM_006712534.4:c.241+1901=	XM_006712534.4:c.241+1901G>A
MGAT5 transcript variant X12	XM_011511199.3:c.241+1901=	XM_011511199.3:c.241+1901G>A
MGAT5 transcript variant X15	XM_011511201.3:c.241+1901=	XM_011511201.3:c.241+1901G>A
MGAT5 transcript variant X19	XM_011511202.3:c.241+1901=	XM_011511202.3:c.241+1901G>A
MGAT5 transcript variant X1	XM_017004147.3:c.241+1901=	XM_017004147.3:c.241+1901G>A
MGAT5 transcript variant X17	XM_017004148.2:c.241+1901=	XM_017004148.2:c.241+1901G>A
MGAT5 transcript variant X21	XM_017004149.2:c.241+1901=	XM_017004149.2:c.241+1901G>A
MGAT5 transcript variant X2	XM_047444394.1:c.241+1901=	XM_047444394.1:c.241+1901G>A
MGAT5 transcript variant X3	XM_047444395.1:c.241+1901=	XM_047444395.1:c.241+1901G>A
MGAT5 transcript variant X4	XM_047444396.1:c.241+1901=	XM_047444396.1:c.241+1901G>A
MGAT5 transcript variant X6	XM_047444397.1:c.241+1901=	XM_047444397.1:c.241+1901G>A
MGAT5 transcript variant X7	XM_047444398.1:c.241+1901=	XM_047444398.1:c.241+1901G>A
MGAT5 transcript variant X8	XM_047444399.1:c.241+1901=	XM_047444399.1:c.241+1901G>A
MGAT5 transcript variant X9	XM_047444400.1:c.241+1901=	XM_047444400.1:c.241+1901G>A
MGAT5 transcript variant X11	XM_047444401.1:c.241+1901=	XM_047444401.1:c.241+1901G>A
MGAT5 transcript variant X13	XM_047444402.1:c.241+1901=	XM_047444402.1:c.241+1901G>A
MGAT5 transcript variant X14	XM_047444403.1:c.241+1901=	XM_047444403.1:c.241+1901G>A
MGAT5 transcript variant X16	XM_047444404.1:c.241+1901=	XM_047444404.1:c.241+1901G>A
MGAT5 transcript variant X18	XM_047444405.1:c.241+1901=	XM_047444405.1:c.241+1901G>A
MGAT5 transcript variant X20	XM_047444406.1:c.241+1901=	XM_047444406.1:c.241+1901G>A

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#.

118 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss3448764	Sep 28, 2001 (100)
2	YUSUKE	ss4977625	Aug 28, 2002 (108)
3	BCM_SSAHASNP	ss9965635	Jul 11, 2003 (116)
4	CSHL-HAPMAP	ss16870695	Feb 27, 2004 (120)
5	SSAHASNP	ss21692993	Apr 05, 2004 (121)
6	ABI	ss44342678	Mar 14, 2006 (126)
7	AFFY	ss76659846	Dec 08, 2007 (130)
8	HGSV	ss79072348	Dec 06, 2007 (129)
9	HGSV	ss85591159	Dec 14, 2007 (130)
10	BCMHGSC_JDW	ss91355732	Mar 24, 2008 (129)
11	HUMANGENOME_JCVI	ss96429402	Feb 04, 2009 (130)
12	KRIBB_YJKIM	ss104872860	Feb 04, 2009 (130)
13	BGI	ss106120780	Feb 04, 2009 (130)
14	1000GENOMES	ss109908823	Jan 24, 2009 (130)
15	ILLUMINA-UK	ss117884704	Feb 14, 2009 (130)
16	ENSEMBL	ss136141818	Dec 01, 2009 (131)
17	ENSEMBL	ss138536006	Dec 01, 2009 (131)
18	GMI	ss157710224	Dec 01, 2009 (131)
19	ILLUMINA	ss160549800	Dec 01, 2009 (131)
20	COMPLETE_GENOMICS	ss164274857	Jul 04, 2010 (132)
21	COMPLETE_GENOMICS	ss165265381	Jul 04, 2010 (132)
22	COMPLETE_GENOMICS	ss167201203	Jul 04, 2010 (132)
23	BUSHMAN	ss201086043	Jul 04, 2010 (132)
24	BCM-HGSC-SUB	ss205835951	Jul 04, 2010 (132)
25	1000GENOMES	ss219523299	Jul 14, 2010 (132)
26	1000GENOMES	ss231370991	Jul 14, 2010 (132)
27	1000GENOMES	ss238877397	Jul 15, 2010 (132)
28	GMI	ss276689873	May 04, 2012 (137)
29	GMI	ss284442384	Apr 25, 2013 (138)
30	ILLUMINA	ss480576265	May 04, 2012 (137)
31	ILLUMINA	ss480590766	May 04, 2012 (137)
32	ILLUMINA	ss481413510	Sep 08, 2015 (146)
33	ILLUMINA	ss485083643	May 04, 2012 (137)
34	ILLUMINA	ss537093571	Sep 08, 2015 (146)
35	TISHKOFF	ss555890886	Apr 25, 2013 (138)
36	SSMP	ss649518152	Apr 25, 2013 (138)
37	ILLUMINA	ss778496989	Sep 08, 2015 (146)
38	ILLUMINA	ss782988123	Sep 08, 2015 (146)
39	ILLUMINA	ss783948978	Sep 08, 2015 (146)
40	ILLUMINA	ss832244855	Sep 08, 2015 (146)
41	ILLUMINA	ss833953051	Sep 08, 2015 (146)
42	EVA-GONL	ss977382050	Aug 21, 2014 (142)
43	JMKIDD_LAB	ss1069512946	Aug 21, 2014 (142)
44	1000GENOMES	ss1299419417	Aug 21, 2014 (142)
45	DDI	ss1428747676	Apr 01, 2015 (144)
46	EVA_GENOME_DK	ss1579096094	Apr 01, 2015 (144)
47	EVA_DECODE	ss1586810101	Apr 01, 2015 (144)
48	EVA_UK10K_ALSPAC	ss1604612533	Apr 01, 2015 (144)
49	EVA_UK10K_TWINSUK	ss1647606566	Apr 01, 2015 (144)
50	EVA_SVP	ss1712491610	Apr 01, 2015 (144)
51	ILLUMINA	ss1752312029	Sep 08, 2015 (146)
52	HAMMER_LAB	ss1797566104	Sep 08, 2015 (146)
53	WEILL_CORNELL_DGM	ss1920640175	Feb 12, 2016 (147)
54	ILLUMINA	ss1946052406	Feb 12, 2016 (147)
55	ILLUMINA	ss1958460443	Feb 12, 2016 (147)
56	GENOMED	ss1968894066	Jul 19, 2016 (147)
57	JJLAB	ss2020844180	Sep 14, 2016 (149)
58	ILLUMINA	ss2094807287	Dec 20, 2016 (150)
59	ILLUMINA	ss2095100704	Dec 20, 2016 (150)
60	USC_VALOUEV	ss2148909717	Dec 20, 2016 (150)
61	HUMAN_LONGEVITY	ss2234462489	Dec 20, 2016 (150)
62	SYSTEMSBIOZJU	ss2624928491	Nov 08, 2017 (151)
63	ILLUMINA	ss2633675694	Nov 08, 2017 (151)
64	GRF	ss2703533720	Nov 08, 2017 (151)
65	ILLUMINA	ss2710912350	Nov 08, 2017 (151)
66	GNOMAD	ss2779922779	Nov 08, 2017 (151)
67	SWEGEN	ss2990466758	Nov 08, 2017 (151)
68	ILLUMINA	ss3022019036	Nov 08, 2017 (151)
69	BIOINF_KMB_FNS_UNIBA	ss3024185378	Nov 08, 2017 (151)
70	CSHL	ss3344492314	Nov 08, 2017 (151)
71	ILLUMINA	ss3625765697	Oct 11, 2018 (152)
72	ILLUMINA	ss3628170477	Oct 11, 2018 (152)
73	ILLUMINA	ss3631639182	Oct 11, 2018 (152)
74	ILLUMINA	ss3633217075	Oct 11, 2018 (152)
75	ILLUMINA	ss3633929566	Oct 11, 2018 (152)
76	ILLUMINA	ss3634788360	Oct 11, 2018 (152)
77	ILLUMINA	ss3635615418	Oct 11, 2018 (152)
78	ILLUMINA	ss3636477255	Oct 11, 2018 (152)
79	ILLUMINA	ss3637367361	Oct 11, 2018 (152)
80	ILLUMINA	ss3640495659	Oct 11, 2018 (152)
81	URBANLAB	ss3647150378	Oct 11, 2018 (152)
82	ILLUMINA	ss3652459429	Oct 11, 2018 (152)
83	EGCUT_WGS	ss3658307935	Jul 13, 2019 (153)
84	EVA_DECODE	ss3704937086	Jul 13, 2019 (153)
85	ILLUMINA	ss3725825769	Jul 13, 2019 (153)
86	ACPOP	ss3728887433	Jul 13, 2019 (153)
87	EVA	ss3757409233	Jul 13, 2019 (153)
88	PAGE_CC	ss3770949952	Jul 13, 2019 (153)
89	PACBIO	ss3784000465	Jul 13, 2019 (153)
90	PACBIO	ss3789563201	Jul 13, 2019 (153)
91	PACBIO	ss3794436145	Jul 13, 2019 (153)
92	KHV_HUMAN_GENOMES	ss3801777203	Jul 13, 2019 (153)
93	EVA	ss3827232500	Apr 25, 2020 (154)
94	EVA	ss3837031736	Apr 25, 2020 (154)
95	EVA	ss3842450340	Apr 25, 2020 (154)
96	SGDP_PRJ	ss3853463024	Apr 25, 2020 (154)
97	KRGDB	ss3899021807	Apr 25, 2020 (154)
98	KOGIC	ss3949013240	Apr 25, 2020 (154)
99	EVA	ss3984489971	Apr 26, 2021 (155)
100	EVA	ss4017021827	Apr 26, 2021 (155)
101	TOPMED	ss4524720892	Apr 26, 2021 (155)
102	TOMMO_GENOMICS	ss5153969575	Apr 26, 2021 (155)
103	1000G_HIGH_COVERAGE	ss5250095521	Oct 12, 2022 (156)
104	EVA	ss5314770654	Oct 12, 2022 (156)
105	HUGCELL_USP	ss5449900284	Oct 12, 2022 (156)
106	EVA	ss5506596449	Oct 12, 2022 (156)
107	1000G_HIGH_COVERAGE	ss5526405847	Oct 12, 2022 (156)
108	SANFORD_IMAGENETICS	ss5624458010	Oct 12, 2022 (156)
109	SANFORD_IMAGENETICS	ss5629854587	Oct 12, 2022 (156)
110	TOMMO_GENOMICS	ss5684126041	Oct 12, 2022 (156)
111	EVA	ss5799545928	Oct 12, 2022 (156)
112	YY_MCH	ss5802743591	Oct 12, 2022 (156)
113	EVA	ss5820837269	Oct 12, 2022 (156)
114	EVA	ss5847883538	Oct 12, 2022 (156)
115	EVA	ss5852723411	Oct 12, 2022 (156)
116	EVA	ss5932462697	Oct 12, 2022 (156)
117	EVA	ss5956056388	Oct 12, 2022 (156)
118	EVA	ss5979582423	Oct 12, 2022 (156)
119	1000Genomes	NC_000002.11 - 135014116	Oct 11, 2018 (152)
120	1000Genomes_30x	NC_000002.12 - 134256545	Oct 12, 2022 (156)
121	The Avon Longitudinal Study of Parents and Children	NC_000002.11 - 135014116	Oct 11, 2018 (152)
122	Genetic variation in the Estonian population	NC_000002.11 - 135014116	Oct 11, 2018 (152)
123	The Danish reference pan genome	NC_000002.11 - 135014116	Apr 25, 2020 (154)
124	gnomAD - Genomes	NC_000002.12 - 134256545	Apr 26, 2021 (155)
125	Genome of the Netherlands Release 5	NC_000002.11 - 135014116	Apr 25, 2020 (154)
126	HapMap	NC_000002.12 - 134256545	Apr 25, 2020 (154)
127	KOREAN population from KRGDB	NC_000002.11 - 135014116	Apr 25, 2020 (154)
128	Korean Genome Project	NC_000002.12 - 134256545	Apr 25, 2020 (154)
129	Northern Sweden	NC_000002.11 - 135014116	Jul 13, 2019 (153)
130	The PAGE Study	NC_000002.12 - 134256545	Jul 13, 2019 (153)
131	CNV burdens in cranial meningiomas	NC_000002.11 - 135014116	Apr 26, 2021 (155)
132	Qatari	NC_000002.11 - 135014116	Apr 25, 2020 (154)
133	SGDP_PRJ	NC_000002.11 - 135014116	Apr 25, 2020 (154)
134	Siberian	NC_000002.11 - 135014116	Apr 25, 2020 (154)
135	8.3KJPN	NC_000002.11 - 135014116	Apr 26, 2021 (155)
136	14KJPN	NC_000002.12 - 134256545	Oct 12, 2022 (156)
137	TopMed	NC_000002.12 - 134256545	Apr 26, 2021 (155)
138	UK 10K study - Twins	NC_000002.11 - 135014116	Oct 11, 2018 (152)
139	ALFA	NC_000002.12 - 134256545	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).

Associated ID	History Updated (Build)
rs3791255	Oct 09, 2002 (108)
rs56586015	May 23, 2008 (130)
rs57394799	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss79072348, ss85591159	NC_000002.9:134847847:G:A	NC_000002.12:134256544:G:A	(self)
ss76659846, ss91355732, ss109908823, ss117884704, ss164274857, ss165265381, ss167201203, ss201086043, ss205835951, ss276689873, ss284442384, ss480576265, ss1586810101, ss1712491610	NC_000002.10:134730585:G:A	NC_000002.12:134256544:G:A	(self)
10438481, 5749351, 4046183, 5261033, 2528129, 6199201, 2172298, 39305, 2682105, 5480004, 1426071, 11938882, 5749351, ss219523299, ss231370991, ss238877397, ss480590766, ss481413510, ss485083643, ss537093571, ss555890886, ss649518152, ss778496989, ss782988123, ss783948978, ss832244855, ss833953051, ss977382050, ss1069512946, ss1299419417, ss1428747676, ss1579096094, ss1604612533, ss1647606566, ss1752312029, ss1797566104, ss1920640175, ss1946052406, ss1958460443, ss1968894066, ss2020844180, ss2094807287, ss2095100704, ss2148909717, ss2624928491, ss2633675694, ss2703533720, ss2710912350, ss2779922779, ss2990466758, ss3022019036, ss3344492314, ss3625765697, ss3628170477, ss3631639182, ss3633217075, ss3633929566, ss3634788360, ss3635615418, ss3636477255, ss3637367361, ss3640495659, ss3652459429, ss3658307935, ss3728887433, ss3757409233, ss3784000465, ss3789563201, ss3794436145, ss3827232500, ss3837031736, ss3853463024, ss3899021807, ss3984489971, ss4017021827, ss5153969575, ss5314770654, ss5506596449, ss5624458010, ss5629854587, ss5799545928, ss5820837269, ss5847883538, ss5956056388, ss5979582423	NC_000002.11:135014115:G:A	NC_000002.12:134256544:G:A	(self)
13931782, 74423229, 1898052, 5391241, 171421, 17963145, 328543771, 11692537692, ss2234462489, ss3024185378, ss3647150378, ss3704937086, ss3725825769, ss3770949952, ss3801777203, ss3842450340, ss3949013240, ss4524720892, ss5250095521, ss5449900284, ss5526405847, ss5684126041, ss5802743591, ss5852723411, ss5932462697	NC_000002.12:134256544:G:A	NC_000002.12:134256544:G:A	(self)
ss9965635	NT_005058.13:3623014:G:A	NC_000002.12:134256544:G:A	(self)
ss16870695, ss21692993	NT_005058.14:3623124:G:A	NC_000002.12:134256544:G:A	(self)
ss3448764, ss4977625, ss44342678, ss96429402, ss104872860, ss106120780, ss136141818, ss138536006, ss157710224, ss160549800	NT_022135.16:24762778:G:A	NC_000002.12:134256544:G:A	(self)

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

No publications for rs2460382

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

rs2460382