Name: rs11800462
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.

rs11800462

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:6464441 (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: T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.102305 (27079/264690, TOPMED)
C=0.074797 (19345/258632, ALFA)
C=0.072518 (17688/243912, GnomAD_exome) (+ 25 more)
C=0.105658 (14813/140198, GnomAD)
C=0.09020 (8692/96364, ExAC)
C=0.11075 (8715/78688, PAGE_STUDY)
C=0.01186 (335/28258, 14KJPN)
C=0.01158 (194/16760, 8.3KJPN)
C=0.10731 (1395/13000, GO-ESP)
C=0.1004 (643/6404, 1000G_30x)
C=0.0986 (494/5008, 1000G)
C=0.0882 (395/4480, Estonian)
C=0.0656 (253/3854, ALSPAC)
C=0.0693 (257/3708, TWINSUK)
C=0.0123 (36/2920, KOREAN)
C=0.0787 (164/2084, HGDP_Stanford)
C=0.1254 (216/1722, HapMap)
C=0.082 (82/998, GoNL)
C=0.004 (3/792, PRJEB37584)
C=0.073 (44/600, NorthernSweden)
C=0.030 (16/534, MGP)
C=0.085 (24/282, FINRISK)
C=0.111 (24/216, Qatari)
T=0.45 (34/76, SGDP_PRJ)
C=0.04 (2/52, Ancient Sardinia)
C=0.10 (4/40, GENOME_DK)
T=0.5 (2/4, Siberian)
C=0.5 (2/4, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TNFRSF25 : Missense 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	275138	T=0.923199	C=0.076801
European	Sub	230036	T=0.929294	C=0.070706
African	Sub	15598	T=0.81401	C=0.18599
African Others	Sub	540	T=0.761	C=0.239
African American	Sub	15058	T=0.81591	C=0.18409
Asian	Sub	832	T=0.994	C=0.006
East Asian	Sub	658	T=0.994	C=0.006
Other Asian	Sub	174	T=0.994	C=0.006
Latin American 1	Sub	1190	T=0.9017	C=0.0983
Latin American 2	Sub	6920	T=0.9630	C=0.0370
South Asian	Sub	5048	T=0.9166	C=0.0834
Other	Sub	15514	T=0.92484	C=0.07516

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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	T=0.897695	C=0.102305
Allele Frequency Aggregator	Total	Global	258632	T=0.925203	C=0.074797
Allele Frequency Aggregator	European	Sub	219820	T=0.929374	C=0.070626
Allele Frequency Aggregator	Other	Sub	14062	T=0.92505	C=0.07495
Allele Frequency Aggregator	African	Sub	10760	T=0.81719	C=0.18281
Allele Frequency Aggregator	Latin American 2	Sub	6920	T=0.9630	C=0.0370
Allele Frequency Aggregator	South Asian	Sub	5048	T=0.9166	C=0.0834
Allele Frequency Aggregator	Latin American 1	Sub	1190	T=0.9017	C=0.0983
Allele Frequency Aggregator	Asian	Sub	832	T=0.994	C=0.006
gnomAD - Exomes	Global	Study-wide	243912	T=0.927482	C=0.072518
gnomAD - Exomes	European	Sub	130850	T=0.925930	C=0.074070
gnomAD - Exomes	Asian	Sub	47924	T=0.94086	C=0.05914
gnomAD - Exomes	American	Sub	33742	T=0.96331	C=0.03669
gnomAD - Exomes	African	Sub	15542	T=0.80556	C=0.19444
gnomAD - Exomes	Ashkenazi Jewish	Sub	9856	T=0.9511	C=0.0489
gnomAD - Exomes	Other	Sub	5998	T=0.9300	C=0.0700
gnomAD - Genomes	Global	Study-wide	140198	T=0.894342	C=0.105658
gnomAD - Genomes	European	Sub	75932	T=0.92608	C=0.07392
gnomAD - Genomes	African	Sub	42016	T=0.80805	C=0.19195
gnomAD - Genomes	American	Sub	13644	T=0.94159	C=0.05841
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.9548	C=0.0452
gnomAD - Genomes	East Asian	Sub	3132	T=0.9978	C=0.0022
gnomAD - Genomes	Other	Sub	2152	T=0.9159	C=0.0841
ExAC	Global	Study-wide	96364	T=0.90980	C=0.09020
ExAC	Europe	Sub	58586	T=0.91725	C=0.08275
ExAC	Asian	Sub	20652	T=0.92514	C=0.07486
ExAC	African	Sub	8662	T=0.7860	C=0.2140
ExAC	American	Sub	7766	T=0.9504	C=0.0496
ExAC	Other	Sub	698	T=0.915	C=0.085
The PAGE Study	Global	Study-wide	78688	T=0.88925	C=0.11075
The PAGE Study	AfricanAmerican	Sub	32510	T=0.81212	C=0.18788
The PAGE Study	Mexican	Sub	10810	T=0.95680	C=0.04320
The PAGE Study	Asian	Sub	8314	T=0.9880	C=0.0120
The PAGE Study	PuertoRican	Sub	7918	T=0.9148	C=0.0852
The PAGE Study	NativeHawaiian	Sub	4532	T=0.9704	C=0.0296
The PAGE Study	Cuban	Sub	4228	T=0.9246	C=0.0754
The PAGE Study	Dominican	Sub	3828	T=0.8772	C=0.1228
The PAGE Study	CentralAmerican	Sub	2450	T=0.9371	C=0.0629
The PAGE Study	SouthAmerican	Sub	1982	T=0.9430	C=0.0570
The PAGE Study	NativeAmerican	Sub	1260	T=0.9286	C=0.0714
The PAGE Study	SouthAsian	Sub	856	T=0.901	C=0.099
14KJPN	JAPANESE	Study-wide	28258	T=0.98814	C=0.01186
8.3KJPN	JAPANESE	Study-wide	16760	T=0.98842	C=0.01158
GO Exome Sequencing Project	Global	Study-wide	13000	T=0.89269	C=0.10731
GO Exome Sequencing Project	European American	Sub	8598	T=0.9308	C=0.0692
GO Exome Sequencing Project	African American	Sub	4402	T=0.8183	C=0.1817
1000Genomes_30x	Global	Study-wide	6404	T=0.8996	C=0.1004
1000Genomes_30x	African	Sub	1786	T=0.7912	C=0.2088
1000Genomes_30x	Europe	Sub	1266	T=0.9313	C=0.0687
1000Genomes_30x	South Asian	Sub	1202	T=0.8977	C=0.1023
1000Genomes_30x	East Asian	Sub	1170	T=0.9949	C=0.0051
1000Genomes_30x	American	Sub	980	T=0.945	C=0.055
1000Genomes	Global	Study-wide	5008	T=0.9014	C=0.0986
1000Genomes	African	Sub	1322	T=0.7920	C=0.2080
1000Genomes	East Asian	Sub	1008	T=0.9940	C=0.0060
1000Genomes	Europe	Sub	1006	T=0.9314	C=0.0686
1000Genomes	South Asian	Sub	978	T=0.892	C=0.108
1000Genomes	American	Sub	694	T=0.945	C=0.055
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.9118	C=0.0882
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.9344	C=0.0656
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.9307	C=0.0693
KOREAN population from KRGDB	KOREAN	Study-wide	2920	T=0.9877	C=0.0123
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	T=0.9213	C=0.0787
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.996	C=0.004
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.930	C=0.070
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.909	C=0.091
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.919	C=0.081
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.715	C=0.285
HGDP-CEPH-db Supplement 1	America	Sub	216	T=1.000	C=0.000
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.92	C=0.08
HapMap	Global	Study-wide	1722	T=0.8746	C=0.1254
HapMap	African	Sub	692	T=0.828	C=0.172
HapMap	American	Sub	600	T=0.870	C=0.130
HapMap	Asian	Sub	254	T=0.984	C=0.016
HapMap	Europe	Sub	176	T=0.915	C=0.085
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.918	C=0.082
CNV burdens in cranial meningiomas	Global	Study-wide	792	T=0.996	C=0.004
CNV burdens in cranial meningiomas	CRM	Sub	792	T=0.996	C=0.004
Northern Sweden	ACPOP	Study-wide	600	T=0.927	C=0.073
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.970	C=0.030
FINRISK	Finnish from FINRISK project	Study-wide	282	T=0.915	C=0.085
Qatari	Global	Study-wide	216	T=0.889	C=0.111
SGDP_PRJ	Global	Study-wide	76	T=0.45	C=0.55
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	52	T=0.96	C=0.04
The Danish reference pan genome	Danish	Study-wide	40	T=0.90	C=0.10
Siberian	Global	Study-wide	4	T=0.5	C=0.5

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 1	NC_000001.11:g.6464441T>C
GRCh37.p13 chr 1	NC_000001.10:g.6524501T>C
PLEKHG5 RefSeqGene (LRG_262)	NG_007978.1:g.60569A>G
TNFRSF25 RefSeqGene	NG_029910.1:g.6755A>G

Gene: TNFRSF25, TNF receptor superfamily member 25 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TNFRSF25 transcript variant 7	NM_148970.2:c.160+999A>G	N/A	Intron Variant
TNFRSF25 transcript variant 2	NM_003790.3:c.476A>G	D [GAT] > G [GGT]	Coding Sequence Variant
tumor necrosis factor receptor superfamily member 25 isoform 2 precursor	NP_003781.1:p.Asp159Gly	D (Asp) > G (Gly)	Missense Variant
TNFRSF25 transcript variant 12	NM_001039664.2:c.476A>G	D [GAT] > G [GGT]	Coding Sequence Variant
tumor necrosis factor receptor superfamily member 25 isoform 12 precursor	NP_001034753.1:p.Asp159Gly	D (Asp) > G (Gly)	Missense Variant
TNFRSF25 transcript variant 1	NM_148965.2:c.476A>G	D [GAT] > G [GGT]	Coding Sequence Variant
tumor necrosis factor receptor superfamily member 25 isoform 1 precursor	NP_683866.1:p.Asp159Gly	D (Asp) > G (Gly)	Missense Variant
TNFRSF25 transcript variant 4	NM_148967.2:c.341A>G	D [GAT] > G [GGT]	Coding Sequence Variant
tumor necrosis factor receptor superfamily member 25 isoform 4 precursor	NP_683868.1:p.Asp114Gly	D (Asp) > G (Gly)	Missense Variant
TNFRSF25 transcript variant 3	NM_148966.2:c.476A>G	D [GAT] > G [GGT]	Coding Sequence Variant
tumor necrosis factor receptor superfamily member 25 isoform 3 precursor	NP_683867.1:p.Asp159Gly	D (Asp) > G (Gly)	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.

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	T=	C
GRCh38.p14 chr 1	NC_000001.11:g.6464441=	NC_000001.11:g.6464441T>C
GRCh37.p13 chr 1	NC_000001.10:g.6524501=	NC_000001.10:g.6524501T>C
PLEKHG5 RefSeqGene (LRG_262)	NG_007978.1:g.60569=	NG_007978.1:g.60569A>G
TNFRSF25 RefSeqGene	NG_029910.1:g.6755=	NG_029910.1:g.6755A>G
TNFRSF25 transcript variant 2	NM_003790.3:c.476=	NM_003790.3:c.476A>G
TNFRSF25 transcript variant 2	NM_003790.2:c.476=	NM_003790.2:c.476A>G
TNFRSF25 transcript variant 1	NM_148965.2:c.476=	NM_148965.2:c.476A>G
TNFRSF25 transcript variant 1	NM_148965.1:c.476=	NM_148965.1:c.476A>G
TNFRSF25 transcript variant 3	NM_148966.2:c.476=	NM_148966.2:c.476A>G
TNFRSF25 transcript variant 3	NM_148966.1:c.476=	NM_148966.1:c.476A>G
TNFRSF25 transcript variant 4	NM_148967.2:c.341=	NM_148967.2:c.341A>G
TNFRSF25 transcript variant 4	NM_148967.1:c.341=	NM_148967.1:c.341A>G
TNFRSF25 transcript variant 12	NM_001039664.2:c.476=	NM_001039664.2:c.476A>G
TNFRSF25 transcript variant 12	NM_001039664.1:c.476=	NM_001039664.1:c.476A>G
TNFRSF25 transcript variant 5	NM_148968.1:c.476=	NM_148968.1:c.476A>G
TNFRSF25 transcript variant 6	NM_148969.1:c.476=	NM_148969.1:c.476A>G
TNFRSF25 transcript variant 8	NM_148971.1:c.476=	NM_148971.1:c.476A>G
TNFRSF25 transcript variant 9	NM_148972.1:c.476=	NM_148972.1:c.476A>G
TNFRSF25 transcript variant 10	NM_148973.1:c.341=	NM_148973.1:c.341A>G
tumor necrosis factor receptor superfamily member 25 isoform 2 precursor	NP_003781.1:p.Asp159=	NP_003781.1:p.Asp159Gly
tumor necrosis factor receptor superfamily member 25 isoform 1 precursor	NP_683866.1:p.Asp159=	NP_683866.1:p.Asp159Gly
tumor necrosis factor receptor superfamily member 25 isoform 3 precursor	NP_683867.1:p.Asp159=	NP_683867.1:p.Asp159Gly
tumor necrosis factor receptor superfamily member 25 isoform 4 precursor	NP_683868.1:p.Asp114=	NP_683868.1:p.Asp114Gly
tumor necrosis factor receptor superfamily member 25 isoform 12 precursor	NP_001034753.1:p.Asp159=	NP_001034753.1:p.Asp159Gly
TNFRSF25 transcript variant 7	NM_148970.1:c.160+999=	NM_148970.1:c.160+999A>G
TNFRSF25 transcript variant 7	NM_148970.2:c.160+999=	NM_148970.2:c.160+999A>G

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#.

151 SubSNP, 27 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	CSHL-HAPMAP	ss17329114	Feb 28, 2004 (120)
2	SSAHASNP	ss20495520	Apr 05, 2004 (121)
3	APPLERA_GI	ss48420538	Mar 15, 2006 (126)
4	ILLUMINA	ss65730545	Oct 16, 2006 (127)
5	ILLUMINA	ss66551382	Dec 01, 2006 (127)
6	ILLUMINA	ss66958214	Dec 01, 2006 (127)
7	ILLUMINA	ss67121988	Dec 01, 2006 (127)
8	PERLEGEN	ss68757598	May 17, 2007 (127)
9	ILLUMINA	ss70400327	May 17, 2007 (127)
10	EGP_SNPS	ss70457401	May 17, 2007 (127)
11	ILLUMINA	ss70543417	May 26, 2008 (130)
12	ILLUMINA	ss71075835	May 17, 2007 (127)
13	ILLUMINA	ss75119488	Dec 07, 2007 (129)
14	KRIBB_YJKIM	ss85144639	Dec 15, 2007 (130)
15	CANCER-GENOME	ss86341804	Mar 23, 2008 (129)
16	ILLUMINA	ss121508975	Dec 01, 2009 (131)
17	ILLUMINA	ss153066395	Dec 01, 2009 (131)
18	ILLUMINA	ss159190621	Dec 01, 2009 (131)
19	SEATTLESEQ	ss159695902	Dec 01, 2009 (131)
20	ILLUMINA	ss160005679	Dec 01, 2009 (131)
21	ENSEMBL	ss161267229	Dec 01, 2009 (131)
22	ILLUMINA	ss169966090	Jul 04, 2010 (132)
23	ILLUMINA	ss171590828	Jul 04, 2010 (132)
24	BUSHMAN	ss197965733	Jul 04, 2010 (132)
25	BCM-HGSC-SUB	ss205416149	Jul 04, 2010 (132)
26	1000GENOMES	ss210460614	Jul 14, 2010 (132)
27	1000GENOMES	ss217314398	Jul 14, 2010 (132)
28	1000GENOMES	ss217405832	Jul 14, 2010 (132)
29	1000GENOMES	ss217410490	Jul 14, 2010 (132)
30	1000GENOMES	ss217410980	Jul 14, 2010 (132)
31	1000GENOMES	ss218218073	Jul 14, 2010 (132)
32	1000GENOMES	ss230414449	Jul 14, 2010 (132)
33	NHLBI-ESP	ss341928664	May 09, 2011 (134)
34	ILLUMINA	ss479599007	May 04, 2012 (137)
35	ILLUMINA	ss479603744	May 04, 2012 (137)
36	ILLUMINA	ss480088465	Sep 08, 2015 (146)
37	ILLUMINA	ss484598228	May 04, 2012 (137)
38	1000GENOMES	ss489717684	May 04, 2012 (137)
39	EXOME_CHIP	ss491285326	May 04, 2012 (137)
40	CLINSEQ_SNP	ss491583249	May 04, 2012 (137)
41	ILLUMINA	ss536725480	Sep 08, 2015 (146)
42	TISHKOFF	ss553757161	Apr 25, 2013 (138)
43	SSMP	ss647552978	Apr 25, 2013 (138)
44	ILLUMINA	ss778391737	Aug 21, 2014 (142)
45	ILLUMINA	ss780902421	Aug 21, 2014 (142)
46	ILLUMINA	ss782745937	Aug 21, 2014 (142)
47	ILLUMINA	ss783589606	Aug 21, 2014 (142)
48	ILLUMINA	ss783712775	Aug 21, 2014 (142)
49	ILLUMINA	ss825369635	Apr 01, 2015 (144)
50	ILLUMINA	ss831997963	Apr 01, 2015 (144)
51	ILLUMINA	ss832703102	Aug 21, 2014 (142)
52	ILLUMINA	ss833293791	Aug 21, 2014 (142)
53	ILLUMINA	ss833846816	Aug 21, 2014 (142)
54	JMKIDD_LAB	ss974432904	Aug 21, 2014 (142)
55	EVA-GONL	ss974820724	Aug 21, 2014 (142)
56	JMKIDD_LAB	ss1067415443	Aug 21, 2014 (142)
57	JMKIDD_LAB	ss1067645522	Aug 21, 2014 (142)
58	1000GENOMES	ss1289542636	Aug 21, 2014 (142)
59	DDI	ss1425701806	Apr 01, 2015 (144)
60	EVA_GENOME_DK	ss1573870589	Apr 01, 2015 (144)
61	EVA_FINRISK	ss1584004192	Apr 01, 2015 (144)
62	EVA_DECODE	ss1584178929	Apr 01, 2015 (144)
63	EVA_UK10K_ALSPAC	ss1599475882	Apr 01, 2015 (144)
64	EVA_UK10K_TWINSUK	ss1642469915	Apr 01, 2015 (144)
65	EVA_EXAC	ss1685271936	Apr 01, 2015 (144)
66	EVA_MGP	ss1710886357	Apr 01, 2015 (144)
67	EVA_SVP	ss1712308793	Apr 01, 2015 (144)
68	ILLUMINA	ss1751929344	Sep 08, 2015 (146)
69	HAMMER_LAB	ss1793836951	Sep 08, 2015 (146)
70	WEILL_CORNELL_DGM	ss1918018209	Feb 12, 2016 (147)
71	ILLUMINA	ss1958237404	Feb 12, 2016 (147)
72	JJLAB	ss2019524941	Sep 14, 2016 (149)
73	USC_VALOUEV	ss2147518262	Dec 20, 2016 (150)
74	HUMAN_LONGEVITY	ss2159755136	Dec 20, 2016 (150)
75	ILLUMINA	ss2632472444	Nov 08, 2017 (151)
76	GRF	ss2697413660	Nov 08, 2017 (151)
77	ILLUMINA	ss2710664594	Nov 08, 2017 (151)
78	GNOMAD	ss2731072761	Nov 08, 2017 (151)
79	GNOMAD	ss2746200452	Nov 08, 2017 (151)
80	GNOMAD	ss2751216390	Nov 08, 2017 (151)
81	AFFY	ss2984843398	Nov 08, 2017 (151)
82	SWEGEN	ss2986238938	Nov 08, 2017 (151)
83	ILLUMINA	ss3021050292	Nov 08, 2017 (151)
84	BIOINF_KMB_FNS_UNIBA	ss3023526914	Nov 08, 2017 (151)
85	CSHL	ss3343301939	Nov 08, 2017 (151)
86	ILLUMINA	ss3626017892	Oct 11, 2018 (152)
87	ILLUMINA	ss3626017893	Oct 11, 2018 (152)
88	ILLUMINA	ss3630511485	Oct 11, 2018 (152)
89	ILLUMINA	ss3632879564	Oct 11, 2018 (152)
90	ILLUMINA	ss3633573285	Oct 11, 2018 (152)
91	ILLUMINA	ss3634304808	Oct 11, 2018 (152)
92	ILLUMINA	ss3634304809	Oct 11, 2018 (152)
93	ILLUMINA	ss3635267434	Oct 11, 2018 (152)
94	ILLUMINA	ss3635981173	Oct 11, 2018 (152)
95	ILLUMINA	ss3637017797	Oct 11, 2018 (152)
96	ILLUMINA	ss3637735205	Oct 11, 2018 (152)
97	ILLUMINA	ss3638889001	Oct 11, 2018 (152)
98	ILLUMINA	ss3639441299	Oct 11, 2018 (152)
99	ILLUMINA	ss3640012173	Oct 11, 2018 (152)
100	ILLUMINA	ss3640012174	Oct 11, 2018 (152)
101	ILLUMINA	ss3642749265	Oct 11, 2018 (152)
102	ILLUMINA	ss3644479279	Oct 11, 2018 (152)
103	OMUKHERJEE_ADBS	ss3646220530	Oct 11, 2018 (152)
104	ILLUMINA	ss3651373089	Oct 11, 2018 (152)
105	ILLUMINA	ss3653617259	Oct 11, 2018 (152)
106	EGCUT_WGS	ss3654338938	Jul 12, 2019 (153)
107	EVA_DECODE	ss3686092724	Jul 12, 2019 (153)
108	ILLUMINA	ss3724993023	Jul 12, 2019 (153)
109	ACPOP	ss3726760588	Jul 12, 2019 (153)
110	ILLUMINA	ss3744605787	Jul 12, 2019 (153)
111	ILLUMINA	ss3744605788	Jul 12, 2019 (153)
112	EVA	ss3745786303	Jul 12, 2019 (153)
113	PAGE_CC	ss3770782678	Jul 12, 2019 (153)
114	ILLUMINA	ss3772107437	Jul 12, 2019 (153)
115	KHV_HUMAN_GENOMES	ss3798806744	Jul 12, 2019 (153)
116	EVA	ss3823553103	Apr 25, 2020 (154)
117	EVA	ss3825551840	Apr 25, 2020 (154)
118	EVA	ss3826006677	Apr 25, 2020 (154)
119	HGDP	ss3847323430	Apr 25, 2020 (154)
120	SGDP_PRJ	ss3848120388	Apr 25, 2020 (154)
121	KRGDB	ss3892987896	Apr 25, 2020 (154)
122	FSA-LAB	ss3983913885	Apr 25, 2021 (155)
123	FSA-LAB	ss3983913886	Apr 25, 2021 (155)
124	EVA	ss3984451549	Apr 25, 2021 (155)
125	EVA	ss3984776587	Apr 25, 2021 (155)
126	EVA	ss3986096303	Apr 25, 2021 (155)
127	EVA	ss4016891489	Apr 25, 2021 (155)
128	TOPMED	ss4438024108	Apr 25, 2021 (155)
129	TOMMO_GENOMICS	ss5142303819	Apr 25, 2021 (155)
130	EVA	ss5236863581	Apr 25, 2021 (155)
131	EVA	ss5237259319	Apr 25, 2021 (155)
132	EVA	ss5237630728	Oct 17, 2022 (156)
133	1000G_HIGH_COVERAGE	ss5241048180	Oct 17, 2022 (156)
134	EVA	ss5314590190	Oct 17, 2022 (156)
135	EVA	ss5316521498	Oct 17, 2022 (156)
136	HUGCELL_USP	ss5442264955	Oct 17, 2022 (156)
137	1000G_HIGH_COVERAGE	ss5512750059	Oct 17, 2022 (156)
138	EVA	ss5623986771	Oct 17, 2022 (156)
139	SANFORD_IMAGENETICS	ss5624195330	Oct 17, 2022 (156)
140	SANFORD_IMAGENETICS	ss5624855174	Oct 17, 2022 (156)
141	TOMMO_GENOMICS	ss5666550269	Oct 17, 2022 (156)
142	EVA	ss5799407032	Oct 17, 2022 (156)
143	EVA	ss5799474018	Oct 17, 2022 (156)
144	EVA	ss5831492413	Oct 17, 2022 (156)
145	EVA	ss5847151872	Oct 17, 2022 (156)
146	EVA	ss5847523760	Oct 17, 2022 (156)
147	EVA	ss5848246350	Oct 17, 2022 (156)
148	EVA	ss5906902582	Oct 17, 2022 (156)
149	EVA	ss5936681297	Oct 17, 2022 (156)
150	EVA	ss5979261637	Oct 17, 2022 (156)
151	EVA	ss5979930503	Oct 17, 2022 (156)
152	1000Genomes	NC_000001.10 - 6524501	Oct 11, 2018 (152)
153	1000Genomes_30x	NC_000001.11 - 6464441	Oct 17, 2022 (156)
154	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 6524501	Oct 11, 2018 (152)
155	Genetic variation in the Estonian population	NC_000001.10 - 6524501	Oct 11, 2018 (152)
156	ExAC	NC_000001.10 - 6524501	Oct 11, 2018 (152)
157	FINRISK	NC_000001.10 - 6524501	Apr 25, 2020 (154)
158	The Danish reference pan genome	NC_000001.10 - 6524501	Apr 25, 2020 (154)
159	gnomAD - Genomes	NC_000001.11 - 6464441	Apr 25, 2021 (155)
160	gnomAD - Exomes	NC_000001.10 - 6524501	Jul 12, 2019 (153)
161	GO Exome Sequencing Project	NC_000001.10 - 6524501	Oct 11, 2018 (152)
162	Genome of the Netherlands Release 5	NC_000001.10 - 6524501	Apr 25, 2020 (154)
163	HGDP-CEPH-db Supplement 1	NC_000001.9 - 6447088	Apr 25, 2020 (154)
164	HapMap	NC_000001.11 - 6464441	Apr 25, 2020 (154)
165	KOREAN population from KRGDB	NC_000001.10 - 6524501	Apr 25, 2020 (154)
166	Medical Genome Project healthy controls from Spanish population	NC_000001.10 - 6524501	Apr 25, 2020 (154)
167	Northern Sweden	NC_000001.10 - 6524501	Jul 12, 2019 (153)
168	The PAGE Study	NC_000001.11 - 6464441	Jul 12, 2019 (153)
169	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000001.10 - 6524501	Apr 25, 2021 (155)
170	CNV burdens in cranial meningiomas	NC_000001.10 - 6524501	Apr 25, 2021 (155)
171	Qatari	NC_000001.10 - 6524501	Apr 25, 2020 (154)
172	SGDP_PRJ	NC_000001.10 - 6524501	Apr 25, 2020 (154)
173	Siberian	NC_000001.10 - 6524501	Apr 25, 2020 (154)
174	8.3KJPN	NC_000001.10 - 6524501	Apr 25, 2021 (155)
175	14KJPN	NC_000001.11 - 6464441	Oct 17, 2022 (156)
176	TopMed	NC_000001.11 - 6464441	Apr 25, 2021 (155)
177	UK 10K study - Twins	NC_000001.10 - 6524501	Oct 11, 2018 (152)
178	ALFA	NC_000001.11 - 6464441	Apr 25, 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)
rs60621941	May 26, 2008 (130)
rs386521323	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3638889001, ss3639441299	NC_000001.8:6458766:T:C	NC_000001.11:6464440:T:C	(self)
1322, ss160005679, ss197965733, ss205416149, ss210460614, ss217314398, ss217405832, ss217410490, ss217410980, ss479599007, ss491583249, ss825369635, ss1584178929, ss1712308793, ss3642749265, ss3847323430	NC_000001.9:6447087:T:C	NC_000001.11:6464440:T:C	(self)
213467, 106257, 77186, 4448945, 653, 1377222, 87319, 11835, 46420, 165290, 3109, 45453, 2514, 849, 60139, 137368, 34616, 273126, 106257, ss218218073, ss230414449, ss341928664, ss479603744, ss480088465, ss484598228, ss489717684, ss491285326, ss536725480, ss553757161, ss647552978, ss778391737, ss780902421, ss782745937, ss783589606, ss783712775, ss831997963, ss832703102, ss833293791, ss833846816, ss974432904, ss974820724, ss1067415443, ss1067645522, ss1289542636, ss1425701806, ss1573870589, ss1584004192, ss1599475882, ss1642469915, ss1685271936, ss1710886357, ss1751929344, ss1793836951, ss1918018209, ss1958237404, ss2019524941, ss2147518262, ss2632472444, ss2697413660, ss2710664594, ss2731072761, ss2746200452, ss2751216390, ss2984843398, ss2986238938, ss3021050292, ss3343301939, ss3626017892, ss3626017893, ss3630511485, ss3632879564, ss3633573285, ss3634304808, ss3634304809, ss3635267434, ss3635981173, ss3637017797, ss3637735205, ss3640012173, ss3640012174, ss3644479279, ss3646220530, ss3651373089, ss3653617259, ss3654338938, ss3726760588, ss3744605787, ss3744605788, ss3745786303, ss3772107437, ss3823553103, ss3825551840, ss3826006677, ss3848120388, ss3892987896, ss3983913885, ss3983913886, ss3984451549, ss3984776587, ss3986096303, ss4016891489, ss5142303819, ss5237259319, ss5314590190, ss5316521498, ss5623986771, ss5624195330, ss5624855174, ss5799407032, ss5799474018, ss5831492413, ss5847151872, ss5847523760, ss5848246350, ss5936681297, ss5979261637, ss5979930503	NC_000001.10:6524500:T:C	NC_000001.11:6464440:T:C	(self)
275994, 1469452, 7788, 4147, 387373, 1630443, 11814490565, ss2159755136, ss3023526914, ss3686092724, ss3724993023, ss3770782678, ss3798806744, ss4438024108, ss5236863581, ss5237630728, ss5241048180, ss5442264955, ss5512750059, ss5666550269, ss5906902582	NC_000001.11:6464440:T:C	NC_000001.11:6464440:T:C	(self)
ss17329114, ss20495520	NT_021937.16:651559:T:C	NC_000001.11:6464440:T:C	(self)
ss48420538, ss65730545, ss66551382, ss66958214, ss67121988, ss68757598, ss70400327, ss70457401, ss70543417, ss71075835, ss75119488, ss85144639, ss86341804, ss121508975, ss153066395, ss159190621, ss159695902, ss161267229, ss169966090, ss171590828	NT_021937.19:2529232:T:C	NC_000001.11:6464440:T:C	(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 rs11800462

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

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs11800462