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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs2230419

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:225419442 (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
C>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.162228 (50865/313540, ALFA)
C=0.281624 (74543/264690, TOPMED)
C=0.278059 (38950/140078, GnomAD) (+ 22 more)
C=0.199085 (24059/120848, ExAC)
C=0.32423 (25517/78700, PAGE_STUDY)
C=0.03235 (914/28256, 14KJPN)
C=0.03168 (531/16760, 8.3KJPN)
C=0.29671 (3859/13006, GO-ESP)
C=0.2993 (1917/6404, 1000G_30x)
C=0.2877 (1441/5008, 1000G)
C=0.1545 (692/4480, Estonian)
C=0.1598 (616/3854, ALSPAC)
C=0.1702 (631/3708, TWINSUK)
C=0.0502 (147/2930, KOREAN)
C=0.2971 (561/1888, HapMap)
C=0.0442 (81/1832, Korea1K)
C=0.169 (169/998, GoNL)
C=0.021 (13/612, Vietnamese)
C=0.187 (112/600, NorthernSweden)
T=0.335 (179/534, MGP)
C=0.112 (58/520, SGDP_PRJ)
C=0.158 (48/304, FINRISK)
C=0.162 (35/216, Qatari)
C=0.17 (9/54, Siberian)
C=0.23 (9/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
LBR : Missense Variant
Publications
3 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 329804 C=0.168661 T=0.831339
European Sub 277892 C=0.154636 T=0.845364
African Sub 13442 C=0.56033 T=0.43967
African Others Sub 488 C=0.656 T=0.344
African American Sub 12954 C=0.55674 T=0.44326
Asian Sub 6902 C=0.0410 T=0.9590
East Asian Sub 4948 C=0.0424 T=0.9576
Other Asian Sub 1954 C=0.0374 T=0.9626
Latin American 1 Sub 1396 C=0.2299 T=0.7701
Latin American 2 Sub 6640 C=0.1185 T=0.8815
South Asian Sub 366 C=0.295 T=0.705
Other Sub 23166 C=0.15635 T=0.84365


Help

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
Allele Frequency Aggregator Total Global 313540 C=0.162228 T=0.837772
Allele Frequency Aggregator European Sub 267822 C=0.154166 T=0.845834
Allele Frequency Aggregator Other Sub 21750 C=0.15182 T=0.84818
Allele Frequency Aggregator African Sub 8664 C=0.5511 T=0.4489
Allele Frequency Aggregator Asian Sub 6902 C=0.0410 T=0.9590
Allele Frequency Aggregator Latin American 2 Sub 6640 C=0.1185 T=0.8815
Allele Frequency Aggregator Latin American 1 Sub 1396 C=0.2299 T=0.7701
Allele Frequency Aggregator South Asian Sub 366 C=0.295 T=0.705
TopMed Global Study-wide 264690 C=0.281624 T=0.718376
gnomAD - Genomes Global Study-wide 140078 C=0.278059 T=0.721941
gnomAD - Genomes European Sub 75904 C=0.15844 T=0.84156
gnomAD - Genomes African Sub 41922 C=0.56958 T=0.43042
gnomAD - Genomes American Sub 13652 C=0.14782 T=0.85218
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.1150 T=0.8850
gnomAD - Genomes East Asian Sub 3126 C=0.0419 T=0.9581
gnomAD - Genomes Other Sub 2152 C=0.2393 T=0.7607
ExAC Global Study-wide 120848 C=0.199085 T=0.800915
ExAC Europe Sub 73110 C=0.15315 T=0.84685
ExAC Asian Sub 25130 C=0.21425 T=0.78575
ExAC American Sub 11538 C=0.12498 T=0.87502
ExAC African Sub 10164 C=0.57900 T=0.42100
ExAC Other Sub 906 C=0.167 T=0.833
The PAGE Study Global Study-wide 78700 C=0.32423 T=0.67577
The PAGE Study AfricanAmerican Sub 32514 C=0.55601 T=0.44399
The PAGE Study Mexican Sub 10810 C=0.12100 T=0.87900
The PAGE Study Asian Sub 8318 C=0.0411 T=0.9589
The PAGE Study PuertoRican Sub 7918 C=0.2496 T=0.7504
The PAGE Study NativeHawaiian Sub 4534 C=0.1266 T=0.8734
The PAGE Study Cuban Sub 4230 C=0.1965 T=0.8035
The PAGE Study Dominican Sub 3828 C=0.3276 T=0.6724
The PAGE Study CentralAmerican Sub 2450 C=0.1673 T=0.8327
The PAGE Study SouthAmerican Sub 1982 C=0.1297 T=0.8703
The PAGE Study NativeAmerican Sub 1260 C=0.2151 T=0.7849
The PAGE Study SouthAsian Sub 856 C=0.252 T=0.748
14KJPN JAPANESE Study-wide 28256 C=0.03235 T=0.96765
8.3KJPN JAPANESE Study-wide 16760 C=0.03168 T=0.96832
GO Exome Sequencing Project Global Study-wide 13006 C=0.29671 T=0.70329
GO Exome Sequencing Project European American Sub 8600 C=0.1603 T=0.8397
GO Exome Sequencing Project African American Sub 4406 C=0.5629 T=0.4371
1000Genomes_30x Global Study-wide 6404 C=0.2993 T=0.7007
1000Genomes_30x African Sub 1786 C=0.6456 T=0.3544
1000Genomes_30x Europe Sub 1266 C=0.1596 T=0.8404
1000Genomes_30x South Asian Sub 1202 C=0.3186 T=0.6814
1000Genomes_30x East Asian Sub 1170 C=0.0359 T=0.9641
1000Genomes_30x American Sub 980 C=0.140 T=0.860
1000Genomes Global Study-wide 5008 C=0.2877 T=0.7123
1000Genomes African Sub 1322 C=0.6369 T=0.3631
1000Genomes East Asian Sub 1008 C=0.0367 T=0.9633
1000Genomes Europe Sub 1006 C=0.1581 T=0.8419
1000Genomes South Asian Sub 978 C=0.313 T=0.687
1000Genomes American Sub 694 C=0.140 T=0.860
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.1545 T=0.8455
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.1598 T=0.8402
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.1702 T=0.8298
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.0502 A=0.0000, G=0.0000, T=0.9498
HapMap Global Study-wide 1888 C=0.2971 T=0.7029
HapMap American Sub 768 C=0.211 T=0.789
HapMap African Sub 690 C=0.516 T=0.484
HapMap Asian Sub 254 C=0.035 T=0.965
HapMap Europe Sub 176 C=0.193 T=0.807
Korean Genome Project KOREAN Study-wide 1832 C=0.0442 T=0.9558
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.169 T=0.831
A Vietnamese Genetic Variation Database Global Study-wide 612 C=0.021 T=0.979
Northern Sweden ACPOP Study-wide 600 C=0.187 T=0.813
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.665 T=0.335
SGDP_PRJ Global Study-wide 520 C=0.112 T=0.888
FINRISK Finnish from FINRISK project Study-wide 304 C=0.158 T=0.842
Qatari Global Study-wide 216 C=0.162 T=0.838
Siberian Global Study-wide 54 C=0.17 T=0.83
The Danish reference pan genome Danish Study-wide 40 C=0.23 T=0.78
Help

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.225419442C>A
GRCh38.p14 chr 1 NC_000001.11:g.225419442C>G
GRCh38.p14 chr 1 NC_000001.11:g.225419442C>T
GRCh37.p13 chr 1 NC_000001.10:g.225607144C>A
GRCh37.p13 chr 1 NC_000001.10:g.225607144C>G
GRCh37.p13 chr 1 NC_000001.10:g.225607144C>T
LBR RefSeqGene NG_008099.1:g.14376G>T
LBR RefSeqGene NG_008099.1:g.14376G>C
LBR RefSeqGene NG_008099.1:g.14376G>A
Gene: LBR, lamin B receptor (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LBR transcript variant 1 NM_002296.4:c.461G>T S [AGT] > I [ATT] Coding Sequence Variant
delta(14)-sterol reductase LBR NP_002287.2:p.Ser154Ile S (Ser) > I (Ile) Missense Variant
LBR transcript variant 1 NM_002296.4:c.461G>C S [AGT] > T [ACT] Coding Sequence Variant
delta(14)-sterol reductase LBR NP_002287.2:p.Ser154Thr S (Ser) > T (Thr) Missense Variant
LBR transcript variant 1 NM_002296.4:c.461G>A S [AGT] > N [AAT] Coding Sequence Variant
delta(14)-sterol reductase LBR NP_002287.2:p.Ser154Asn S (Ser) > N (Asn) Missense Variant
LBR transcript variant 2 NM_194442.3:c.461G>T S [AGT] > I [ATT] Coding Sequence Variant
delta(14)-sterol reductase LBR NP_919424.1:p.Ser154Ile S (Ser) > I (Ile) Missense Variant
LBR transcript variant 2 NM_194442.3:c.461G>C S [AGT] > T [ACT] Coding Sequence Variant
delta(14)-sterol reductase LBR NP_919424.1:p.Ser154Thr S (Ser) > T (Thr) Missense Variant
LBR transcript variant 2 NM_194442.3:c.461G>A S [AGT] > N [AAT] Coding Sequence Variant
delta(14)-sterol reductase LBR NP_919424.1:p.Ser154Asn S (Ser) > N (Asn) Missense Variant
LBR transcript variant X1 XM_011544185.4:c.461G>T S [AGT] > I [ATT] Coding Sequence Variant
delta(14)-sterol reductase LBR isoform X1 XP_011542487.1:p.Ser154Ile S (Ser) > I (Ile) Missense Variant
LBR transcript variant X1 XM_011544185.4:c.461G>C S [AGT] > T [ACT] Coding Sequence Variant
delta(14)-sterol reductase LBR isoform X1 XP_011542487.1:p.Ser154Thr S (Ser) > T (Thr) Missense Variant
LBR transcript variant X1 XM_011544185.4:c.461G>A S [AGT] > N [AAT] Coding Sequence Variant
delta(14)-sterol reductase LBR isoform X1 XP_011542487.1:p.Ser154Asn S (Ser) > N (Asn) Missense Variant
LBR transcript variant X2 XM_005273125.4:c.461G>T S [AGT] > I [ATT] Coding Sequence Variant
delta(14)-sterol reductase LBR isoform X2 XP_005273182.1:p.Ser154Ile S (Ser) > I (Ile) Missense Variant
LBR transcript variant X2 XM_005273125.4:c.461G>C S [AGT] > T [ACT] Coding Sequence Variant
delta(14)-sterol reductase LBR isoform X2 XP_005273182.1:p.Ser154Thr S (Ser) > T (Thr) Missense Variant
LBR transcript variant X2 XM_005273125.4:c.461G>A S [AGT] > N [AAT] Coding Sequence Variant
delta(14)-sterol reductase LBR isoform X2 XP_005273182.1:p.Ser154Asn S (Ser) > N (Asn) Missense Variant
LBR transcript variant X3 XM_047420376.1:c.461G>T S [AGT] > I [ATT] Coding Sequence Variant
delta(14)-sterol reductase LBR isoform X2 XP_047276332.1:p.Ser154Ile S (Ser) > I (Ile) Missense Variant
LBR transcript variant X3 XM_047420376.1:c.461G>C S [AGT] > T [ACT] Coding Sequence Variant
delta(14)-sterol reductase LBR isoform X2 XP_047276332.1:p.Ser154Thr S (Ser) > T (Thr) Missense Variant
LBR transcript variant X3 XM_047420376.1:c.461G>A S [AGT] > N [AAT] Coding Sequence Variant
delta(14)-sterol reductase LBR isoform X2 XP_047276332.1:p.Ser154Asn S (Ser) > N (Asn) Missense Variant
LBR transcript variant X4 XM_047420377.1:c.461G>T S [AGT] > I [ATT] Coding Sequence Variant
delta(14)-sterol reductase LBR isoform X2 XP_047276333.1:p.Ser154Ile S (Ser) > I (Ile) Missense Variant
LBR transcript variant X4 XM_047420377.1:c.461G>C S [AGT] > T [ACT] Coding Sequence Variant
delta(14)-sterol reductase LBR isoform X2 XP_047276333.1:p.Ser154Thr S (Ser) > T (Thr) Missense Variant
LBR transcript variant X4 XM_047420377.1:c.461G>A S [AGT] > N [AAT] Coding Sequence Variant
delta(14)-sterol reductase LBR isoform X2 XP_047276333.1:p.Ser154Asn S (Ser) > N (Asn) Missense Variant
LBR transcript variant X5 XM_047420386.1:c.461G>T S [AGT] > I [ATT] Coding Sequence Variant
delta(14)-sterol reductase LBR isoform X3 XP_047276342.1:p.Ser154Ile S (Ser) > I (Ile) Missense Variant
LBR transcript variant X5 XM_047420386.1:c.461G>C S [AGT] > T [ACT] Coding Sequence Variant
delta(14)-sterol reductase LBR isoform X3 XP_047276342.1:p.Ser154Thr S (Ser) > T (Thr) Missense Variant
LBR transcript variant X5 XM_047420386.1:c.461G>A S [AGT] > N [AAT] Coding Sequence Variant
delta(14)-sterol reductase LBR isoform X3 XP_047276342.1:p.Ser154Asn S (Ser) > N (Asn) Missense Variant
Help

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: T (allele ID: 249738 )
ClinVar Accession Disease Names Clinical Significance
RCV000245894.3 not specified Benign
RCV000287243.5 Greenberg dysplasia Benign
RCV000712172.8 not provided Benign
RCV001730622.2 Reynolds syndrome Benign
Help

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 C= A G T
GRCh38.p14 chr 1 NC_000001.11:g.225419442= NC_000001.11:g.225419442C>A NC_000001.11:g.225419442C>G NC_000001.11:g.225419442C>T
GRCh37.p13 chr 1 NC_000001.10:g.225607144= NC_000001.10:g.225607144C>A NC_000001.10:g.225607144C>G NC_000001.10:g.225607144C>T
LBR RefSeqGene NG_008099.1:g.14376= NG_008099.1:g.14376G>T NG_008099.1:g.14376G>C NG_008099.1:g.14376G>A
LBR transcript variant 1 NM_002296.4:c.461= NM_002296.4:c.461G>T NM_002296.4:c.461G>C NM_002296.4:c.461G>A
LBR transcript variant 1 NM_002296.3:c.461= NM_002296.3:c.461G>T NM_002296.3:c.461G>C NM_002296.3:c.461G>A
LBR transcript variant 2 NM_194442.3:c.461= NM_194442.3:c.461G>T NM_194442.3:c.461G>C NM_194442.3:c.461G>A
LBR transcript variant 2 NM_194442.2:c.461= NM_194442.2:c.461G>T NM_194442.2:c.461G>C NM_194442.2:c.461G>A
LBR transcript variant X1 XM_011544185.4:c.461= XM_011544185.4:c.461G>T XM_011544185.4:c.461G>C XM_011544185.4:c.461G>A
LBR transcript variant X1 XM_011544185.3:c.461= XM_011544185.3:c.461G>T XM_011544185.3:c.461G>C XM_011544185.3:c.461G>A
LBR transcript variant X1 XM_011544185.2:c.461= XM_011544185.2:c.461G>T XM_011544185.2:c.461G>C XM_011544185.2:c.461G>A
LBR transcript variant X1 XM_011544185.1:c.461= XM_011544185.1:c.461G>T XM_011544185.1:c.461G>C XM_011544185.1:c.461G>A
LBR transcript variant X2 XM_005273125.4:c.461= XM_005273125.4:c.461G>T XM_005273125.4:c.461G>C XM_005273125.4:c.461G>A
LBR transcript variant X2 XM_005273125.3:c.461= XM_005273125.3:c.461G>T XM_005273125.3:c.461G>C XM_005273125.3:c.461G>A
LBR transcript variant X2 XM_005273125.2:c.461= XM_005273125.2:c.461G>T XM_005273125.2:c.461G>C XM_005273125.2:c.461G>A
LBR transcript variant X1 XM_005273125.1:c.461= XM_005273125.1:c.461G>T XM_005273125.1:c.461G>C XM_005273125.1:c.461G>A
LBR transcript variant X4 XM_047420377.1:c.461= XM_047420377.1:c.461G>T XM_047420377.1:c.461G>C XM_047420377.1:c.461G>A
LBR transcript variant X3 XM_047420376.1:c.461= XM_047420376.1:c.461G>T XM_047420376.1:c.461G>C XM_047420376.1:c.461G>A
LBR transcript variant X5 XM_047420386.1:c.461= XM_047420386.1:c.461G>T XM_047420386.1:c.461G>C XM_047420386.1:c.461G>A
delta(14)-sterol reductase LBR NP_002287.2:p.Ser154= NP_002287.2:p.Ser154Ile NP_002287.2:p.Ser154Thr NP_002287.2:p.Ser154Asn
delta(14)-sterol reductase LBR NP_919424.1:p.Ser154= NP_919424.1:p.Ser154Ile NP_919424.1:p.Ser154Thr NP_919424.1:p.Ser154Asn
delta(14)-sterol reductase LBR isoform X1 XP_011542487.1:p.Ser154= XP_011542487.1:p.Ser154Ile XP_011542487.1:p.Ser154Thr XP_011542487.1:p.Ser154Asn
delta(14)-sterol reductase LBR isoform X2 XP_005273182.1:p.Ser154= XP_005273182.1:p.Ser154Ile XP_005273182.1:p.Ser154Thr XP_005273182.1:p.Ser154Asn
delta(14)-sterol reductase LBR isoform X2 XP_047276333.1:p.Ser154= XP_047276333.1:p.Ser154Ile XP_047276333.1:p.Ser154Thr XP_047276333.1:p.Ser154Asn
delta(14)-sterol reductase LBR isoform X2 XP_047276332.1:p.Ser154= XP_047276332.1:p.Ser154Ile XP_047276332.1:p.Ser154Thr XP_047276332.1:p.Ser154Asn
delta(14)-sterol reductase LBR isoform X3 XP_047276342.1:p.Ser154= XP_047276342.1:p.Ser154Ile XP_047276342.1:p.Ser154Thr XP_047276342.1:p.Ser154Asn
Help

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#.

174 SubSNP, 27 Frequency, 4 ClinVar submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss4923299 Aug 28, 2002 (108)
2 BCM_SSAHASNP ss9831182 Jul 11, 2003 (126)
3 CSHL-HAPMAP ss16391024 Feb 27, 2004 (126)
4 SSAHASNP ss20493796 Apr 05, 2004 (126)
5 PERLEGEN ss23181145 Sep 20, 2004 (126)
6 ABI ss44005553 Mar 10, 2006 (126)
7 APPLERA_GI ss48426833 Mar 10, 2006 (126)
8 ILLUMINA ss65728940 Oct 16, 2006 (127)
9 PERLEGEN ss68794892 May 18, 2007 (127)
10 ILLUMINA ss74856566 Dec 06, 2007 (129)
11 HGSV ss77715082 Dec 06, 2007 (129)
12 HGSV ss78628383 Dec 06, 2007 (129)
13 CANCER-GENOME ss86342302 Mar 23, 2008 (129)
14 BCMHGSC_JDW ss87991954 Mar 23, 2008 (129)
15 HUMANGENOME_JCVI ss98008049 Feb 04, 2009 (130)
16 BGI ss106636236 Feb 04, 2009 (130)
17 1000GENOMES ss108995337 Jan 23, 2009 (130)
18 ENSEMBL ss138164785 Dec 01, 2009 (131)
19 ENSEMBL ss139050419 Dec 01, 2009 (131)
20 GMI ss156358682 Dec 01, 2009 (131)
21 SEATTLESEQ ss159700682 Dec 01, 2009 (131)
22 ILLUMINA ss160517592 Dec 01, 2009 (131)
23 COMPLETE_GENOMICS ss165855255 Jul 04, 2010 (132)
24 COMPLETE_GENOMICS ss167540576 Jul 04, 2010 (132)
25 ILLUMINA ss173194267 Jul 04, 2010 (132)
26 BUSHMAN ss199682728 Jul 04, 2010 (132)
27 BCM-HGSC-SUB ss205426772 Jul 04, 2010 (132)
28 1000GENOMES ss210753961 Jul 14, 2010 (132)
29 1000GENOMES ss218913635 Jul 14, 2010 (132)
30 1000GENOMES ss230926635 Jul 14, 2010 (132)
31 1000GENOMES ss238534714 Jul 15, 2010 (132)
32 ILLUMINA ss244288040 Jul 04, 2010 (132)
33 BL ss253864309 May 09, 2011 (134)
34 GMI ss276241880 May 04, 2012 (137)
35 PJP ss290746241 May 09, 2011 (134)
36 NHLBI-ESP ss342032809 May 09, 2011 (134)
37 ILLUMINA ss410920620 Sep 17, 2011 (135)
38 ILLUMINA ss480472644 May 04, 2012 (137)
39 ILLUMINA ss480486980 May 04, 2012 (137)
40 ILLUMINA ss481284709 Sep 08, 2015 (146)
41 ILLUMINA ss485033796 May 04, 2012 (137)
42 1000GENOMES ss489794267 May 04, 2012 (137)
43 EXOME_CHIP ss491311419 May 04, 2012 (137)
44 CLINSEQ_SNP ss491616179 May 04, 2012 (137)
45 ILLUMINA ss537057740 Sep 08, 2015 (146)
46 TISHKOFF ss555175629 Apr 25, 2013 (138)
47 SSMP ss648746116 Apr 25, 2013 (138)
48 ILLUMINA ss778859779 Sep 08, 2015 (146)
49 ILLUMINA ss780753003 Sep 08, 2015 (146)
50 ILLUMINA ss782963144 Aug 21, 2014 (142)
51 ILLUMINA ss783431209 Sep 08, 2015 (146)
52 ILLUMINA ss783925163 Sep 08, 2015 (146)
53 ILLUMINA ss832219384 Apr 01, 2015 (144)
54 ILLUMINA ss834320546 Sep 08, 2015 (146)
55 JMKIDD_LAB ss974439944 Aug 21, 2014 (142)
56 EVA-GONL ss976207239 Aug 21, 2014 (142)
57 JMKIDD_LAB ss1067432430 Aug 21, 2014 (142)
58 JMKIDD_LAB ss1068649501 Aug 21, 2014 (142)
59 1000GENOMES ss1294886379 Aug 21, 2014 (142)
60 DDI ss1426129917 Apr 01, 2015 (144)
61 EVA_GENOME_DK ss1574718297 Apr 01, 2015 (144)
62 EVA_FINRISK ss1584015385 Apr 01, 2015 (144)
63 EVA_DECODE ss1585604809 Apr 01, 2015 (144)
64 EVA_UK10K_ALSPAC ss1602266322 Apr 01, 2015 (144)
65 EVA_UK10K_TWINSUK ss1645260355 Apr 01, 2015 (144)
66 EVA_EXAC ss1686077284 Apr 01, 2015 (144)
67 EVA_MGP ss1710945492 Apr 01, 2015 (144)
68 EVA_SVP ss1712409999 Apr 01, 2015 (144)
69 ILLUMINA ss1751901892 Sep 08, 2015 (146)
70 ILLUMINA ss1751901893 Sep 08, 2015 (146)
71 HAMMER_LAB ss1795810206 Sep 08, 2015 (146)
72 ILLUMINA ss1917743016 Feb 12, 2016 (147)
73 WEILL_CORNELL_DGM ss1919429761 Feb 12, 2016 (147)
74 ILLUMINA ss1946024971 Feb 12, 2016 (147)
75 ILLUMINA ss1946024972 Feb 12, 2016 (147)
76 ILLUMINA ss1958362150 Feb 12, 2016 (147)
77 ILLUMINA ss1958362151 Feb 12, 2016 (147)
78 AMU ss1966653901 Feb 12, 2016 (147)
79 GENOMED ss1966988158 Jul 19, 2016 (147)
80 JJLAB ss2020239121 Sep 14, 2016 (149)
81 USC_VALOUEV ss2148272995 Dec 20, 2016 (150)
82 HUMAN_LONGEVITY ss2170573463 Dec 20, 2016 (150)
83 SYSTEMSBIOZJU ss2624630738 Nov 08, 2017 (151)
84 ILLUMINA ss2632636821 Nov 08, 2017 (151)
85 ILLUMINA ss2632636822 Nov 08, 2017 (151)
86 GRF ss2698270724 Nov 08, 2017 (151)
87 ILLUMINA ss2710695960 Nov 08, 2017 (151)
88 GNOMAD ss2732311231 Nov 08, 2017 (151)
89 GNOMAD ss2746572856 Nov 08, 2017 (151)
90 GNOMAD ss2766887064 Nov 08, 2017 (151)
91 SWEGEN ss2988548586 Nov 08, 2017 (151)
92 ILLUMINA ss3021185860 Nov 08, 2017 (151)
93 ILLUMINA ss3021185861 Nov 08, 2017 (151)
94 BIOINF_KMB_FNS_UNIBA ss3023880065 Nov 08, 2017 (151)
95 CSHL ss3343940212 Nov 08, 2017 (151)
96 ILLUMINA ss3625564938 Oct 11, 2018 (152)
97 ILLUMINA ss3626321952 Oct 11, 2018 (152)
98 ILLUMINA ss3626321953 Oct 11, 2018 (152)
99 ILLUMINA ss3630666308 Oct 11, 2018 (152)
100 ILLUMINA ss3632927648 Oct 11, 2018 (152)
101 ILLUMINA ss3633623770 Oct 11, 2018 (152)
102 ILLUMINA ss3634375804 Oct 11, 2018 (152)
103 ILLUMINA ss3634375805 Oct 11, 2018 (152)
104 ILLUMINA ss3635316830 Oct 11, 2018 (152)
105 ILLUMINA ss3636054704 Oct 11, 2018 (152)
106 ILLUMINA ss3637067377 Oct 11, 2018 (152)
107 ILLUMINA ss3637817510 Oct 11, 2018 (152)
108 ILLUMINA ss3640083157 Oct 11, 2018 (152)
109 ILLUMINA ss3640083158 Oct 11, 2018 (152)
110 ILLUMINA ss3642823636 Oct 11, 2018 (152)
111 ILLUMINA ss3644520970 Oct 11, 2018 (152)
112 ILLUMINA ss3644520971 Oct 11, 2018 (152)
113 OMUKHERJEE_ADBS ss3646254101 Oct 11, 2018 (152)
114 URBANLAB ss3646900550 Oct 11, 2018 (152)
115 ILLUMINA ss3651531333 Oct 11, 2018 (152)
116 ILLUMINA ss3651531334 Oct 11, 2018 (152)
117 EGCUT_WGS ss3656507664 Jul 12, 2019 (153)
118 EVA_DECODE ss3688745246 Jul 12, 2019 (153)
119 ILLUMINA ss3725110840 Jul 12, 2019 (153)
120 ACPOP ss3727914612 Jul 12, 2019 (153)
121 ILLUMINA ss3744061616 Jul 12, 2019 (153)
122 ILLUMINA ss3744360796 Jul 12, 2019 (153)
123 ILLUMINA ss3744676657 Jul 12, 2019 (153)
124 ILLUMINA ss3744676658 Jul 12, 2019 (153)
125 EVA ss3747409325 Jul 12, 2019 (153)
126 PAGE_CC ss3770875969 Jul 12, 2019 (153)
127 ILLUMINA ss3772177553 Jul 12, 2019 (153)
128 ILLUMINA ss3772177554 Jul 12, 2019 (153)
129 PACBIO ss3783703969 Jul 12, 2019 (153)
130 PACBIO ss3789313537 Jul 12, 2019 (153)
131 PACBIO ss3794185965 Jul 12, 2019 (153)
132 KHV_HUMAN_GENOMES ss3800412738 Jul 12, 2019 (153)
133 EVA ss3823720608 Apr 25, 2020 (154)
134 EVA ss3825589220 Apr 25, 2020 (154)
135 EVA ss3826674876 Apr 25, 2020 (154)
136 EVA ss3836739431 Apr 25, 2020 (154)
137 EVA ss3842151678 Apr 25, 2020 (154)
138 SGDP_PRJ ss3851021657 Apr 25, 2020 (154)
139 KRGDB ss3896354610 Apr 25, 2020 (154)
140 KOGIC ss3946611511 Apr 25, 2020 (154)
141 FSA-LAB ss3983964814 Apr 27, 2021 (155)
142 FSA-LAB ss3983964815 Apr 27, 2021 (155)
143 EVA ss3986015706 Apr 27, 2021 (155)
144 EVA ss3986161054 Apr 27, 2021 (155)
145 TOPMED ss4485658530 Apr 27, 2021 (155)
146 TOMMO_GENOMICS ss5148701890 Apr 27, 2021 (155)
147 EVA ss5236879182 Apr 27, 2021 (155)
148 EVA ss5237166617 Apr 27, 2021 (155)
149 EVA ss5237634383 Oct 17, 2022 (156)
150 1000G_HIGH_COVERAGE ss5246002537 Oct 17, 2022 (156)
151 TRAN_CS_UWATERLOO ss5314399308 Oct 17, 2022 (156)
152 EVA ss5314686939 Oct 17, 2022 (156)
153 HUGCELL_USP ss5446416551 Oct 17, 2022 (156)
154 EVA ss5506210439 Oct 17, 2022 (156)
155 1000G_HIGH_COVERAGE ss5520205336 Oct 17, 2022 (156)
156 EVA ss5623918570 Oct 17, 2022 (156)
157 EVA ss5624003633 Oct 17, 2022 (156)
158 SANFORD_IMAGENETICS ss5624231543 Oct 17, 2022 (156)
159 SANFORD_IMAGENETICS ss5627565425 Oct 17, 2022 (156)
160 TOMMO_GENOMICS ss5676538006 Oct 17, 2022 (156)
161 EVA ss5799513470 Oct 17, 2022 (156)
162 EVA ss5800047800 Oct 17, 2022 (156)
163 EVA ss5800090437 Oct 17, 2022 (156)
164 YY_MCH ss5801691713 Oct 17, 2022 (156)
165 EVA ss5833346055 Oct 17, 2022 (156)
166 EVA ss5847576186 Oct 17, 2022 (156)
167 EVA ss5848287032 Oct 17, 2022 (156)
168 EVA ss5849312075 Oct 17, 2022 (156)
169 EVA ss5912210316 Oct 17, 2022 (156)
170 EVA ss5936514131 Oct 17, 2022 (156)
171 EVA ss5939408541 Oct 17, 2022 (156)
172 EVA ss5979306923 Oct 17, 2022 (156)
173 EVA ss5980018464 Oct 17, 2022 (156)
174 EVA ss5981201245 Oct 17, 2022 (156)
175 1000Genomes NC_000001.10 - 225607144 Oct 11, 2018 (152)
176 1000Genomes_30x NC_000001.11 - 225419442 Oct 17, 2022 (156)
177 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 225607144 Oct 11, 2018 (152)
178 Genetic variation in the Estonian population NC_000001.10 - 225607144 Oct 11, 2018 (152)
179 ExAC NC_000001.10 - 225607144 Oct 11, 2018 (152)
180 FINRISK NC_000001.10 - 225607144 Apr 25, 2020 (154)
181 The Danish reference pan genome NC_000001.10 - 225607144 Apr 25, 2020 (154)
182 gnomAD - Genomes NC_000001.11 - 225419442 Apr 27, 2021 (155)
183 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 1347928 (NC_000001.10:225607143:C:C 249899/249900, NC_000001.10:225607143:C:G 1/249900)
Row 1347929 (NC_000001.10:225607143:C:C 47112/249900, NC_000001.10:225607143:C:T 202788/249900)

- Jul 12, 2019 (153)
184 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 1347928 (NC_000001.10:225607143:C:C 249899/249900, NC_000001.10:225607143:C:G 1/249900)
Row 1347929 (NC_000001.10:225607143:C:C 47112/249900, NC_000001.10:225607143:C:T 202788/249900)

- Jul 12, 2019 (153)
185 GO Exome Sequencing Project NC_000001.10 - 225607144 Oct 11, 2018 (152)
186 Genome of the Netherlands Release 5 NC_000001.10 - 225607144 Apr 25, 2020 (154)
187 HapMap NC_000001.11 - 225419442 Apr 25, 2020 (154)
188 KOREAN population from KRGDB NC_000001.10 - 225607144 Apr 25, 2020 (154)
189 Korean Genome Project NC_000001.11 - 225419442 Apr 25, 2020 (154)
190 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 225607144 Apr 25, 2020 (154)
191 Northern Sweden NC_000001.10 - 225607144 Jul 12, 2019 (153)
192 The PAGE Study NC_000001.11 - 225419442 Jul 12, 2019 (153)
193 Qatari NC_000001.10 - 225607144 Apr 25, 2020 (154)
194 SGDP_PRJ NC_000001.10 - 225607144 Apr 25, 2020 (154)
195 Siberian NC_000001.10 - 225607144 Apr 25, 2020 (154)
196 8.3KJPN NC_000001.10 - 225607144 Apr 27, 2021 (155)
197 14KJPN NC_000001.11 - 225419442 Oct 17, 2022 (156)
198 TopMed NC_000001.11 - 225419442 Apr 27, 2021 (155)
199 UK 10K study - Twins NC_000001.10 - 225607144 Oct 11, 2018 (152)
200 A Vietnamese Genetic Variation Database NC_000001.10 - 225607144 Jul 12, 2019 (153)
201 ALFA NC_000001.11 - 225419442 Apr 27, 2021 (155)
202 ClinVar RCV000245894.3 Oct 17, 2022 (156)
203 ClinVar RCV000287243.5 Oct 17, 2022 (156)
204 ClinVar RCV000712172.8 Oct 17, 2022 (156)
205 ClinVar RCV001730622.2 Oct 17, 2022 (156)
Help

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)
rs3737300 Oct 09, 2002 (108)
rs6667718 Mar 10, 2006 (126)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
3532004, ss3896354610 NC_000001.10:225607143:C:A NC_000001.11:225419441:C:A (self)
3532004, ss2732311231, ss3896354610 NC_000001.10:225607143:C:G NC_000001.11:225419441:C:G (self)
ss5849312075 NC_000001.11:225419441:C:G NC_000001.11:225419441:C:G
ss77715082, ss78628383 NC_000001.8:221913878:C:T NC_000001.11:225419441:C:T (self)
ss87991954, ss108995337, ss165855255, ss167540576, ss199682728, ss205426772, ss210753961, ss253864309, ss276241880, ss290746241, ss410920620, ss480472644, ss491616179, ss1585604809, ss1712409999, ss3642823636 NC_000001.9:223673766:C:T NC_000001.11:225419441:C:T (self)
5749381, 3177557, 2245912, 5315552, 11846, 1910722, 179121, 1388940, 3532004, 62244, 1199477, 1471691, 3038637, 789349, 6671197, 3177557, 690247, ss218913635, ss230926635, ss238534714, ss342032809, ss480486980, ss481284709, ss485033796, ss489794267, ss491311419, ss537057740, ss555175629, ss648746116, ss778859779, ss780753003, ss782963144, ss783431209, ss783925163, ss832219384, ss834320546, ss974439944, ss976207239, ss1067432430, ss1068649501, ss1294886379, ss1426129917, ss1574718297, ss1584015385, ss1602266322, ss1645260355, ss1686077284, ss1710945492, ss1751901892, ss1751901893, ss1795810206, ss1917743016, ss1919429761, ss1946024971, ss1946024972, ss1958362150, ss1958362151, ss1966653901, ss1966988158, ss2020239121, ss2148272995, ss2624630738, ss2632636821, ss2632636822, ss2698270724, ss2710695960, ss2732311231, ss2746572856, ss2766887064, ss2988548586, ss3021185860, ss3021185861, ss3343940212, ss3625564938, ss3626321952, ss3626321953, ss3630666308, ss3632927648, ss3633623770, ss3634375804, ss3634375805, ss3635316830, ss3636054704, ss3637067377, ss3637817510, ss3640083157, ss3640083158, ss3644520970, ss3644520971, ss3646254101, ss3651531333, ss3651531334, ss3656507664, ss3727914612, ss3744061616, ss3744360796, ss3744676657, ss3744676658, ss3747409325, ss3772177553, ss3772177554, ss3783703969, ss3789313537, ss3794185965, ss3823720608, ss3825589220, ss3826674876, ss3836739431, ss3851021657, ss3896354610, ss3983964814, ss3983964815, ss3986015706, ss3986161054, ss5148701890, ss5314686939, ss5506210439, ss5623918570, ss5624003633, ss5624231543, ss5627565425, ss5799513470, ss5800047800, ss5800090437, ss5833346055, ss5847576186, ss5848287032, ss5936514131, ss5939408541, ss5979306923, ss5980018464, ss5981201245 NC_000001.10:225607143:C:T NC_000001.11:225419441:C:T (self)
RCV000245894.3, RCV000287243.5, RCV000712172.8, RCV001730622.2, 7731271, 41285414, 281147, 2989512, 97438, 10375110, 49264865, 1750202474, ss2170573463, ss3023880065, ss3646900550, ss3688745246, ss3725110840, ss3770875969, ss3800412738, ss3842151678, ss3946611511, ss4485658530, ss5236879182, ss5237166617, ss5237634383, ss5246002537, ss5314399308, ss5446416551, ss5520205336, ss5676538006, ss5801691713, ss5849312075, ss5912210316 NC_000001.11:225419441:C:T NC_000001.11:225419441:C:T (self)
ss9831182 NT_004525.15:1339443:C:T NC_000001.11:225419441:C:T (self)
ss16391024, ss20493796 NT_004559.11:1783337:C:T NC_000001.11:225419441:C:T (self)
ss4923299, ss23181145, ss44005553, ss48426833, ss65728940, ss68794892, ss74856566, ss86342302, ss98008049, ss106636236, ss138164785, ss139050419, ss156358682, ss159700682, ss160517592, ss173194267, ss244288040 NT_167186.1:19124922:C:T NC_000001.11:225419441:C:T (self)
Help

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

3 citations for rs2230419
PMID Title Author Year Journal
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical genetics
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
26489030 Genetic Predictors of Depressive Symptoms in the Look AHEAD Trial. McCaffery JM et al. 2015 Psychosomatic medicine
Help

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.

Software version is: 2.0.1.post761+d5e8e07