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dbSNP Short Genetic Variations

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.

rs3205087

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:3883678 (GRCh38.p13) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.386055 (102185/264690, TOPMED)
G=0.386572 (97185/251402, GnomAD_exome)
G=0.390616 (54680/139984, GnomAD) (+ 23 more)
G=0.397131 (48137/121212, ExAC)
G=0.429684 (51868/120712, ALFA)
G=0.35240 (27731/78692, PAGE_STUDY)
G=0.44051 (7383/16760, 8.3KJPN)
G=0.41289 (5370/13006, GO-ESP)
G=0.3558 (1782/5008, 1000G)
G=0.4042 (1811/4480, Estonian)
G=0.4621 (1781/3854, ALSPAC)
G=0.4571 (1695/3708, TWINSUK)
G=0.3215 (942/2930, KOREAN)
G=0.3805 (793/2084, HGDP_Stanford)
G=0.3768 (713/1892, HapMap)
G=0.3117 (571/1832, Korea1K)
G=0.456 (455/998, GoNL)
G=0.366 (224/612, Vietnamese)
G=0.412 (247/600, NorthernSweden)
G=0.440 (235/534, MGP)
A=0.373 (132/354, SGDP_PRJ)
G=0.365 (111/304, FINRISK)
G=0.435 (94/216, Qatari)
G=0.34 (32/94, Ancient Sardinia)
G=0.38 (15/40, GENOME_DK)
A=0.37 (14/38, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DFFB : Synonymous Variant
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 1 NC_000001.11:g.3883678A>G
GRCh38.p13 chr 1 NC_000001.11:g.3883678A>T
GRCh37.p13 chr 1 NC_000001.10:g.3800242A>G
GRCh37.p13 chr 1 NC_000001.10:g.3800242A>T
Gene: DFFB, DNA fragmentation factor subunit beta (plus strand)
Molecule type Change Amino acid[Codon] SO Term
DFFB transcript variant 4 NM_001320132.2:c.807A>G P [CCA] > P [CCG] Coding Sequence Variant
DNA fragmentation factor subunit beta isoform 4 NP_001307061.1:p.Pro269= P (Pro) > P (Pro) Synonymous Variant
DFFB transcript variant 4 NM_001320132.2:c.807A>T P [CCA] > P [CCT] Coding Sequence Variant
DNA fragmentation factor subunit beta isoform 4 NP_001307061.1:p.Pro269= P (Pro) > P (Pro) Synonymous Variant
DFFB transcript variant 2 NM_004402.4:c.954A>G P [CCA] > P [CCG] Coding Sequence Variant
DNA fragmentation factor subunit beta isoform 2 NP_004393.1:p.Pro318= P (Pro) > P (Pro) Synonymous Variant
DFFB transcript variant 2 NM_004402.4:c.954A>T P [CCA] > P [CCT] Coding Sequence Variant
DNA fragmentation factor subunit beta isoform 2 NP_004393.1:p.Pro318= P (Pro) > P (Pro) Synonymous Variant
DFFB transcript variant 5 NM_001320136.2:c.762A>G P [CCA] > P [CCG] Coding Sequence Variant
DNA fragmentation factor subunit beta isoform 5 NP_001307065.1:p.Pro254= P (Pro) > P (Pro) Synonymous Variant
DFFB transcript variant 5 NM_001320136.2:c.762A>T P [CCA] > P [CCT] Coding Sequence Variant
DNA fragmentation factor subunit beta isoform 5 NP_001307065.1:p.Pro254= P (Pro) > P (Pro) Synonymous Variant
DFFB transcript variant 1 NM_001282669.2:c.1026A>G P [CCA] > P [CCG] Coding Sequence Variant
DNA fragmentation factor subunit beta isoform 1 NP_001269598.1:p.Pro342= P (Pro) > P (Pro) Synonymous Variant
DFFB transcript variant 1 NM_001282669.2:c.1026A>T P [CCA] > P [CCT] Coding Sequence Variant
DNA fragmentation factor subunit beta isoform 1 NP_001269598.1:p.Pro342= P (Pro) > P (Pro) Synonymous Variant
DFFB transcript variant 3 NR_104222.2:n.1219A>G N/A Non Coding Transcript Variant
DFFB transcript variant 3 NR_104222.2:n.1219A>T N/A Non Coding Transcript Variant
DFFB transcript variant 7 NR_135151.2:n.1169A>G N/A Non Coding Transcript Variant
DFFB transcript variant 7 NR_135151.2:n.1169A>T N/A Non Coding Transcript Variant
DFFB transcript variant 6 NR_135150.2:n.1206A>G N/A Non Coding Transcript Variant
DFFB transcript variant 6 NR_135150.2:n.1206A>T N/A Non Coding Transcript Variant
DFFB transcript variant 8 NR_135152.2:n.1104A>G N/A Non Coding Transcript Variant
DFFB transcript variant 8 NR_135152.2:n.1104A>T N/A Non Coding Transcript Variant
DFFB transcript variant X7 XM_017000499.1:c.*124= N/A 3 Prime UTR Variant
DFFB transcript variant X9 XM_017000500.1:c.*124= N/A 3 Prime UTR Variant
DFFB transcript variant X10 XM_011540865.2:c. N/A Genic Downstream Transcript Variant
DFFB transcript variant X6 XM_017000498.2:c.765A>G P [CCA] > P [CCG] Coding Sequence Variant
DNA fragmentation factor subunit beta isoform X1 XP_016855987.1:p.Pro255= P (Pro) > P (Pro) Synonymous Variant
DFFB transcript variant X6 XM_017000498.2:c.765A>T P [CCA] > P [CCT] Coding Sequence Variant
DNA fragmentation factor subunit beta isoform X1 XP_016855987.1:p.Pro255= P (Pro) > P (Pro) Synonymous Variant
DFFB transcript variant X8 XR_946565.1:n.1242A>G N/A Non Coding Transcript Variant
DFFB transcript variant X8 XR_946565.1:n.1242A>T N/A Non Coding Transcript Variant
DFFB transcript variant X1 XR_946563.2:n.1344A>G N/A Non Coding Transcript Variant
DFFB transcript variant X1 XR_946563.2:n.1344A>T N/A Non Coding Transcript Variant
DFFB transcript variant X2 XR_001737011.2:n.2373A>G N/A Non Coding Transcript Variant
DFFB transcript variant X2 XR_001737011.2:n.2373A>T N/A Non Coding Transcript Variant
DFFB transcript variant X3 XR_001737012.2:n.2373A>G N/A Non Coding Transcript Variant
DFFB transcript variant X3 XR_001737012.2:n.2373A>T N/A Non Coding Transcript Variant
DFFB transcript variant X4 XR_002959574.1:n.1272A>G N/A Non Coding Transcript Variant
DFFB transcript variant X4 XR_002959574.1:n.1272A>T N/A Non Coding Transcript Variant
DFFB transcript variant X5 XR_001737013.1:n. N/A Genic Downstream Transcript 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.

Not Reported in ClinVar

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 120712 A=0.570316 G=0.429684
European Sub 99054 A=0.55919 G=0.44081
African Sub 5358 A=0.6650 G=0.3350
African Others Sub 188 A=0.723 G=0.277
African American Sub 5170 A=0.6629 G=0.3371
Asian Sub 292 A=0.596 G=0.404
East Asian Sub 220 A=0.618 G=0.382
Other Asian Sub 72 A=0.53 G=0.47
Latin American 1 Sub 622 A=0.614 G=0.386
Latin American 2 Sub 1334 A=0.6957 G=0.3043
South Asian Sub 4978 A=0.5986 G=0.4014
Other Sub 9074 A=0.5981 G=0.4019


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
TopMed Global Study-wide 264690 A=0.613945 G=0.386055
gnomAD - Exomes Global Study-wide 251402 A=0.613428 G=0.386572
gnomAD - Exomes European Sub 135368 A=0.563974 G=0.436026
gnomAD - Exomes Asian Sub 49006 A=0.63047 G=0.36953
gnomAD - Exomes American Sub 34586 A=0.74524 G=0.25476
gnomAD - Exomes African Sub 16230 A=0.66112 G=0.33888
gnomAD - Exomes Ashkenazi Jewish Sub 10078 A=0.67871 G=0.32129
gnomAD - Exomes Other Sub 6134 A=0.5919 G=0.4081
gnomAD - Genomes Global Study-wide 139984 A=0.609384 G=0.390616
gnomAD - Genomes European Sub 75860 A=0.56391 G=0.43609
gnomAD - Genomes African Sub 41902 A=0.65904 G=0.34096
gnomAD - Genomes American Sub 13628 A=0.68381 G=0.31619
gnomAD - Genomes Ashkenazi Jewish Sub 3318 A=0.6700 G=0.3300
gnomAD - Genomes East Asian Sub 3128 A=0.6672 G=0.3328
gnomAD - Genomes Other Sub 2148 A=0.5968 G=0.4032
ExAC Global Study-wide 121212 A=0.602869 G=0.397131
ExAC Europe Sub 73254 A=0.56533 G=0.43467
ExAC Asian Sub 25136 A=0.62488 G=0.37512
ExAC American Sub 11564 A=0.74196 G=0.25804
ExAC African Sub 10350 A=0.66087 G=0.33913
ExAC Other Sub 908 A=0.589 G=0.411
Allele Frequency Aggregator Total Global 120712 A=0.570316 G=0.429684
Allele Frequency Aggregator European Sub 99054 A=0.55919 G=0.44081
Allele Frequency Aggregator Other Sub 9074 A=0.5981 G=0.4019
Allele Frequency Aggregator African Sub 5358 A=0.6650 G=0.3350
Allele Frequency Aggregator South Asian Sub 4978 A=0.5986 G=0.4014
Allele Frequency Aggregator Latin American 2 Sub 1334 A=0.6957 G=0.3043
Allele Frequency Aggregator Latin American 1 Sub 622 A=0.614 G=0.386
Allele Frequency Aggregator Asian Sub 292 A=0.596 G=0.404
The PAGE Study Global Study-wide 78692 A=0.64760 G=0.35240
The PAGE Study AfricanAmerican Sub 32510 A=0.65103 G=0.34897
The PAGE Study Mexican Sub 10808 A=0.72863 G=0.27137
The PAGE Study Asian Sub 8318 A=0.5963 G=0.4037
The PAGE Study PuertoRican Sub 7918 A=0.6211 G=0.3789
The PAGE Study NativeHawaiian Sub 4534 A=0.5798 G=0.4202
The PAGE Study Cuban Sub 4228 A=0.6034 G=0.3966
The PAGE Study Dominican Sub 3828 A=0.6230 G=0.3770
The PAGE Study CentralAmerican Sub 2450 A=0.7167 G=0.2833
The PAGE Study SouthAmerican Sub 1982 A=0.6973 G=0.3027
The PAGE Study NativeAmerican Sub 1260 A=0.6254 G=0.3746
The PAGE Study SouthAsian Sub 856 A=0.645 G=0.355
8.3KJPN JAPANESE Study-wide 16760 A=0.55949 G=0.44051
GO Exome Sequencing Project Global Study-wide 13006 A=0.58711 G=0.41289
GO Exome Sequencing Project European American Sub 8600 A=0.5490 G=0.4510
GO Exome Sequencing Project African American Sub 4406 A=0.6616 G=0.3384
1000Genomes Global Study-wide 5008 A=0.6442 G=0.3558
1000Genomes African Sub 1322 A=0.6876 G=0.3124
1000Genomes East Asian Sub 1008 A=0.6518 G=0.3482
1000Genomes Europe Sub 1006 A=0.5895 G=0.4105
1000Genomes South Asian Sub 978 A=0.612 G=0.388
1000Genomes American Sub 694 A=0.674 G=0.326
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.5958 G=0.4042
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.5379 G=0.4621
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.5429 G=0.4571
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.6785 G=0.3215, T=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.6195 G=0.3805
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.651 G=0.349
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.570 G=0.430
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.569 G=0.431
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.609 G=0.391
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.702 G=0.298
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.759 G=0.241
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.29 G=0.71
HapMap Global Study-wide 1892 A=0.6232 G=0.3768
HapMap American Sub 770 A=0.638 G=0.362
HapMap African Sub 692 A=0.629 G=0.371
HapMap Asian Sub 254 A=0.567 G=0.433
HapMap Europe Sub 176 A=0.619 G=0.381
Korean Genome Project KOREAN Study-wide 1832 A=0.6883 G=0.3117
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.544 G=0.456
A Vietnamese Genetic Variation Database Global Study-wide 612 A=0.634 G=0.366
Northern Sweden ACPOP Study-wide 600 A=0.588 G=0.412
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.560 G=0.440
SGDP_PRJ Global Study-wide 354 A=0.373 G=0.627
FINRISK Finnish from FINRISK project Study-wide 304 A=0.635 G=0.365
Qatari Global Study-wide 216 A=0.565 G=0.435
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 94 A=0.66 G=0.34
The Danish reference pan genome Danish Study-wide 40 A=0.62 G=0.38
Siberian Global Study-wide 38 A=0.37 G=0.63
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 A= G T
GRCh38.p13 chr 1 NC_000001.11:g.3883678= NC_000001.11:g.3883678A>G NC_000001.11:g.3883678A>T
GRCh37.p13 chr 1 NC_000001.10:g.3800242= NC_000001.10:g.3800242A>G NC_000001.10:g.3800242A>T
DFFB transcript variant 2 NM_004402.4:c.954= NM_004402.4:c.954A>G NM_004402.4:c.954A>T
DFFB transcript variant 2 NM_004402.3:c.954= NM_004402.3:c.954A>G NM_004402.3:c.954A>T
DFFB transcript NM_004402.2:c.954= NM_004402.2:c.954A>G NM_004402.2:c.954A>T
DFFB transcript variant X2 XR_001737011.2:n.2373= XR_001737011.2:n.2373A>G XR_001737011.2:n.2373A>T
DFFB transcript variant 4 NM_001320132.2:c.807= NM_001320132.2:c.807A>G NM_001320132.2:c.807A>T
DFFB transcript variant 4 NM_001320132.1:c.807= NM_001320132.1:c.807A>G NM_001320132.1:c.807A>T
DFFB transcript variant 3 NR_104222.2:n.1219= NR_104222.2:n.1219A>G NR_104222.2:n.1219A>T
DFFB transcript variant 3 NR_104222.1:n.1428= NR_104222.1:n.1428A>G NR_104222.1:n.1428A>T
DFFB transcript variant 6 NR_135150.2:n.1206= NR_135150.2:n.1206A>G NR_135150.2:n.1206A>T
DFFB transcript variant 6 NR_135150.1:n.1415= NR_135150.1:n.1415A>G NR_135150.1:n.1415A>T
DFFB transcript variant 7 NR_135151.2:n.1169= NR_135151.2:n.1169A>G NR_135151.2:n.1169A>T
DFFB transcript variant 7 NR_135151.1:n.1378= NR_135151.1:n.1378A>G NR_135151.1:n.1378A>T
DFFB transcript variant 1 NM_001282669.2:c.1026= NM_001282669.2:c.1026A>G NM_001282669.2:c.1026A>T
DFFB transcript variant 1 NM_001282669.1:c.1026= NM_001282669.1:c.1026A>G NM_001282669.1:c.1026A>T
DFFB transcript variant 5 NM_001320136.2:c.762= NM_001320136.2:c.762A>G NM_001320136.2:c.762A>T
DFFB transcript variant 5 NM_001320136.1:c.762= NM_001320136.1:c.762A>G NM_001320136.1:c.762A>T
DFFB transcript variant 8 NR_135152.2:n.1104= NR_135152.2:n.1104A>G NR_135152.2:n.1104A>T
DFFB transcript variant 8 NR_135152.1:n.1313= NR_135152.1:n.1313A>G NR_135152.1:n.1313A>T
DFFB transcript variant X6 XM_017000498.2:c.765= XM_017000498.2:c.765A>G XM_017000498.2:c.765A>T
DFFB transcript variant X3 XR_001737012.2:n.2373= XR_001737012.2:n.2373A>G XR_001737012.2:n.2373A>T
DFFB transcript variant X1 XR_946563.2:n.1344= XR_946563.2:n.1344A>G XR_946563.2:n.1344A>T
DFFB transcript variant 3 NM_001004285.1:c.*761= NM_001004285.1:c.*761A>G NM_001004285.1:c.*761A>T
DFFB transcript variant 2 NM_001004286.1:c.*628= NM_001004286.1:c.*628A>G NM_001004286.1:c.*628A>T
DFFB transcript variant X7 XM_017000499.1:c.*124= XM_017000499.1:c.*124A>G XM_017000499.1:c.*124A>T
DFFB transcript variant X9 XM_017000500.1:c.*124= XM_017000500.1:c.*124A>G XM_017000500.1:c.*124A>T
DFFB transcript variant X4 XR_002959574.1:n.1272= XR_002959574.1:n.1272A>G XR_002959574.1:n.1272A>T
DFFB transcript variant X8 XR_946565.1:n.1242= XR_946565.1:n.1242A>G XR_946565.1:n.1242A>T
DNA fragmentation factor subunit beta isoform 2 NP_004393.1:p.Pro318= NP_004393.1:p.Pro318= NP_004393.1:p.Pro318=
DNA fragmentation factor subunit beta isoform 4 NP_001307061.1:p.Pro269= NP_001307061.1:p.Pro269= NP_001307061.1:p.Pro269=
DNA fragmentation factor subunit beta isoform 1 NP_001269598.1:p.Pro342= NP_001269598.1:p.Pro342= NP_001269598.1:p.Pro342=
DNA fragmentation factor subunit beta isoform 5 NP_001307065.1:p.Pro254= NP_001307065.1:p.Pro254= NP_001307065.1:p.Pro254=
DNA fragmentation factor subunit beta isoform X1 XP_016855987.1:p.Pro255= XP_016855987.1:p.Pro255= XP_016855987.1:p.Pro255=
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#.

126 SubSNP, 26 Frequency submissions
No Submitter Submission ID Date (Build)
1 LEE ss4434962 May 29, 2002 (105)
2 WI_SSAHASNP ss6396339 Feb 20, 2003 (111)
3 CSHL-HAPMAP ss16413273 Feb 27, 2004 (120)
4 MGC_GENOME_DIFF ss28508866 Sep 24, 2004 (126)
5 ABI ss44065424 Mar 11, 2006 (126)
6 APPLERA_GI ss48426222 Mar 11, 2006 (126)
7 SI_EXO ss61706818 Oct 14, 2006 (127)
8 ILLUMINA ss65734128 Oct 14, 2006 (127)
9 ILLUMINA ss67292716 Nov 29, 2006 (127)
10 ILLUMINA ss67696499 Nov 29, 2006 (127)
11 ILLUMINA ss68218576 Dec 12, 2006 (127)
12 ILLUMINA ss70771309 May 24, 2008 (130)
13 ILLUMINA ss71346633 May 16, 2007 (127)
14 ILLUMINA ss74957378 Dec 06, 2007 (129)
15 HGSV ss83485392 Dec 14, 2007 (130)
16 KRIBB_YJKIM ss84156648 Dec 14, 2007 (130)
17 BCMHGSC_JDW ss87175195 Mar 23, 2008 (129)
18 1000GENOMES ss107949642 Jan 22, 2009 (130)
19 1000GENOMES ss109969277 Jan 24, 2009 (130)
20 ENSEMBL ss137764057 Dec 01, 2009 (131)
21 ILLUMINA ss154256745 Dec 01, 2009 (131)
22 ILLUMINA ss159433302 Dec 01, 2009 (131)
23 SEATTLESEQ ss159695861 Dec 01, 2009 (131)
24 ENSEMBL ss161249858 Dec 01, 2009 (131)
25 COMPLETE_GENOMICS ss163006183 Jul 04, 2010 (132)
26 COMPLETE_GENOMICS ss163740336 Jul 04, 2010 (132)
27 COMPLETE_GENOMICS ss166010214 Jul 04, 2010 (132)
28 ILLUMINA ss173574021 Jul 04, 2010 (132)
29 BUSHMAN ss197926639 Jul 04, 2010 (132)
30 1000GENOMES ss218203778 Jul 14, 2010 (132)
31 1000GENOMES ss230404546 Jul 14, 2010 (132)
32 1000GENOMES ss238123348 Jul 15, 2010 (132)
33 BL ss252881226 May 09, 2011 (134)
34 GMI ss275691804 May 04, 2012 (137)
35 GMI ss283991170 Apr 25, 2013 (138)
36 PJP ss290498565 May 09, 2011 (134)
37 NHLBI-ESP ss341927923 May 09, 2011 (134)
38 ILLUMINA ss482328424 May 04, 2012 (137)
39 ILLUMINA ss484214717 May 04, 2012 (137)
40 1000GENOMES ss489716900 May 04, 2012 (137)
41 CLINSEQ_SNP ss491582995 May 04, 2012 (137)
42 ILLUMINA ss536401685 Sep 08, 2015 (146)
43 TISHKOFF ss553735239 Apr 25, 2013 (138)
44 SSMP ss647537080 Apr 25, 2013 (138)
45 ILLUMINA ss780569866 Aug 21, 2014 (142)
46 ILLUMINA ss782553378 Aug 21, 2014 (142)
47 ILLUMINA ss832944900 Aug 21, 2014 (142)
48 ILLUMINA ss833535730 Aug 21, 2014 (142)
49 ILLUMINA ss836062324 Aug 21, 2014 (142)
50 JMKIDD_LAB ss974432817 Aug 21, 2014 (142)
51 EVA-GONL ss974797270 Aug 21, 2014 (142)
52 JMKIDD_LAB ss1067415269 Aug 21, 2014 (142)
53 JMKIDD_LAB ss1067627969 Aug 21, 2014 (142)
54 1000GENOMES ss1289454389 Aug 21, 2014 (142)
55 DDI ss1425693392 Apr 01, 2015 (144)
56 EVA_GENOME_DK ss1573860562 Apr 01, 2015 (144)
57 EVA_FINRISK ss1584004091 Apr 01, 2015 (144)
58 EVA_DECODE ss1584155989 Apr 01, 2015 (144)
59 EVA_UK10K_ALSPAC ss1599428727 Apr 01, 2015 (144)
60 EVA_UK10K_TWINSUK ss1642422760 Apr 01, 2015 (144)
61 EVA_EXAC ss1685264072 Apr 01, 2015 (144)
62 EVA_MGP ss1710885781 Apr 01, 2015 (144)
63 EVA_SVP ss1712306826 Apr 01, 2015 (144)
64 HAMMER_LAB ss1793786932 Sep 08, 2015 (146)
65 WEILL_CORNELL_DGM ss1917992860 Feb 12, 2016 (147)
66 ILLUMINA ss1958234920 Feb 12, 2016 (147)
67 GENOMED ss1966671616 Jul 19, 2016 (147)
68 JJLAB ss2019512697 Sep 14, 2016 (149)
69 USC_VALOUEV ss2147503032 Dec 20, 2016 (150)
70 HUMAN_LONGEVITY ss2159579572 Dec 20, 2016 (150)
71 TOPMED ss2321734419 Dec 20, 2016 (150)
72 SYSTEMSBIOZJU ss2624272090 Nov 08, 2017 (151)
73 ILLUMINA ss2632468791 Nov 08, 2017 (151)
74 ILLUMINA ss2634995511 Nov 08, 2017 (151)
75 GRF ss2697397139 Nov 08, 2017 (151)
76 GNOMAD ss2731060284 Nov 08, 2017 (151)
77 GNOMAD ss2746196282 Nov 08, 2017 (151)
78 GNOMAD ss2750978878 Nov 08, 2017 (151)
79 AFFY ss2984842680 Nov 08, 2017 (151)
80 AFFY ss2985497064 Nov 08, 2017 (151)
81 SWEGEN ss2986202508 Nov 08, 2017 (151)
82 ILLUMINA ss3021047781 Nov 08, 2017 (151)
83 EVA_SAMSUNG_MC ss3023056129 Nov 08, 2017 (151)
84 BIOINF_KMB_FNS_UNIBA ss3023520032 Nov 08, 2017 (151)
85 TOPMED ss3067140529 Nov 08, 2017 (151)
86 CSHL ss3343289450 Nov 08, 2017 (151)
87 ILLUMINA ss3626012136 Oct 11, 2018 (152)
88 ILLUMINA ss3630508084 Oct 11, 2018 (152)
89 ILLUMINA ss3637733806 Oct 11, 2018 (152)
90 ILLUMINA ss3638888293 Oct 11, 2018 (152)
91 ILLUMINA ss3639757016 Oct 11, 2018 (152)
92 ILLUMINA ss3641567928 Oct 11, 2018 (152)
93 ILLUMINA ss3642748016 Oct 11, 2018 (152)
94 ILLUMINA ss3643810938 Oct 11, 2018 (152)
95 OMUKHERJEE_ADBS ss3646220275 Oct 11, 2018 (152)
96 ILLUMINA ss3651370435 Oct 11, 2018 (152)
97 ILLUMINA ss3653616483 Oct 11, 2018 (152)
98 EGCUT_WGS ss3654303628 Jul 12, 2019 (153)
99 EVA_DECODE ss3686048612 Jul 12, 2019 (153)
100 ILLUMINA ss3724991007 Jul 12, 2019 (153)
101 ACPOP ss3726740767 Jul 12, 2019 (153)
102 EVA ss3745756298 Jul 12, 2019 (153)
103 PAGE_CC ss3770780945 Jul 12, 2019 (153)
104 KHV_HUMAN_GENOMES ss3798778035 Jul 12, 2019 (153)
105 EVA ss3823551167 Apr 25, 2020 (154)
106 EVA ss3825517490 Apr 25, 2020 (154)
107 EVA ss3825534730 Apr 25, 2020 (154)
108 EVA ss3825551358 Apr 25, 2020 (154)
109 EVA ss3825994457 Apr 25, 2020 (154)
110 EVA ss3836384452 Apr 25, 2020 (154)
111 EVA ss3841788639 Apr 25, 2020 (154)
112 HGDP ss3847322586 Apr 25, 2020 (154)
113 SGDP_PRJ ss3848071035 Apr 25, 2020 (154)
114 KRGDB ss3892932722 Apr 25, 2020 (154)
115 KOGIC ss3943694210 Apr 25, 2020 (154)
116 FSA-LAB ss3983913277 Apr 25, 2021 (155)
117 FSA-LAB ss3983913278 Apr 25, 2021 (155)
118 EVA ss3984774998 Apr 25, 2021 (155)
119 EVA ss3986008188 Apr 25, 2021 (155)
120 EVA ss3986095520 Apr 25, 2021 (155)
121 EVA ss4016890139 Apr 25, 2021 (155)
122 TOPMED ss4437323653 Apr 25, 2021 (155)
123 TOMMO_GENOMICS ss5142204546 Apr 25, 2021 (155)
124 EVA ss5236863406 Apr 25, 2021 (155)
125 EVA ss5237158824 Apr 25, 2021 (155)
126 EVA ss5237258782 Apr 25, 2021 (155)
127 1000Genomes NC_000001.10 - 3800242 Oct 11, 2018 (152)
128 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 3800242 Oct 11, 2018 (152)
129 Genetic variation in the Estonian population NC_000001.10 - 3800242 Oct 11, 2018 (152)
130 ExAC NC_000001.10 - 3800242 Oct 11, 2018 (152)
131 FINRISK NC_000001.10 - 3800242 Apr 25, 2020 (154)
132 The Danish reference pan genome NC_000001.10 - 3800242 Apr 25, 2020 (154)
133 gnomAD - Genomes NC_000001.11 - 3883678 Apr 25, 2021 (155)
134 gnomAD - Exomes NC_000001.10 - 3800242 Jul 12, 2019 (153)
135 GO Exome Sequencing Project NC_000001.10 - 3800242 Oct 11, 2018 (152)
136 Genome of the Netherlands Release 5 NC_000001.10 - 3800242 Apr 25, 2020 (154)
137 HGDP-CEPH-db Supplement 1 NC_000001.9 - 3790102 Apr 25, 2020 (154)
138 HapMap NC_000001.11 - 3883678 Apr 25, 2020 (154)
139 KOREAN population from KRGDB NC_000001.10 - 3800242 Apr 25, 2020 (154)
140 Korean Genome Project NC_000001.11 - 3883678 Apr 25, 2020 (154)
141 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 3800242 Apr 25, 2020 (154)
142 Northern Sweden NC_000001.10 - 3800242 Jul 12, 2019 (153)
143 The PAGE Study NC_000001.11 - 3883678 Jul 12, 2019 (153)
144 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 3800242 Apr 25, 2021 (155)
145 Qatari NC_000001.10 - 3800242 Apr 25, 2020 (154)
146 SGDP_PRJ NC_000001.10 - 3800242 Apr 25, 2020 (154)
147 Siberian NC_000001.10 - 3800242 Apr 25, 2020 (154)
148 8.3KJPN NC_000001.10 - 3800242 Apr 25, 2021 (155)
149 TopMed NC_000001.11 - 3883678 Apr 25, 2021 (155)
150 UK 10K study - Twins NC_000001.10 - 3800242 Oct 11, 2018 (152)
151 A Vietnamese Genetic Variation Database NC_000001.10 - 3800242 Jul 12, 2019 (153)
152 ALFA NC_000001.11 - 3883678 Apr 25, 2021 (155)
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)
rs17854564 Mar 11, 2006 (126)
rs57812205 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss83485392, ss3638888293, ss3639757016, ss3643810938 NC_000001.8:3823398:A:G NC_000001.11:3883677:A:G (self)
478, ss87175195, ss107949642, ss109969277, ss163006183, ss163740336, ss166010214, ss197926639, ss252881226, ss275691804, ss283991170, ss290498565, ss482328424, ss491582995, ss1584155989, ss1712306826, ss2634995511, ss3642748016, ss3847322586 NC_000001.9:3790101:A:G NC_000001.11:3883677:A:G (self)
122502, 55108, 41876, 4440554, 552, 1367796, 75292, 9899, 23852, 110116, 2533, 25632, 925, 34790, 88015, 19386, 173853, 55108, 11736, ss218203778, ss230404546, ss238123348, ss341927923, ss484214717, ss489716900, ss536401685, ss553735239, ss647537080, ss780569866, ss782553378, ss832944900, ss833535730, ss836062324, ss974432817, ss974797270, ss1067415269, ss1067627969, ss1289454389, ss1425693392, ss1573860562, ss1584004091, ss1599428727, ss1642422760, ss1685264072, ss1710885781, ss1793786932, ss1917992860, ss1958234920, ss1966671616, ss2019512697, ss2147503032, ss2321734419, ss2624272090, ss2632468791, ss2697397139, ss2731060284, ss2746196282, ss2750978878, ss2984842680, ss2985497064, ss2986202508, ss3021047781, ss3023056129, ss3343289450, ss3626012136, ss3630508084, ss3637733806, ss3641567928, ss3646220275, ss3651370435, ss3653616483, ss3654303628, ss3726740767, ss3745756298, ss3823551167, ss3825517490, ss3825534730, ss3825551358, ss3825994457, ss3836384452, ss3848071035, ss3892932722, ss3983913277, ss3983913278, ss3984774998, ss3986008188, ss3986095520, ss4016890139, ss5142204546, ss5237258782 NC_000001.10:3800241:A:G NC_000001.11:3883677:A:G (self)
879511, 2930, 72211, 2414, 579341, 929988, 392584599, ss2159579572, ss3023520032, ss3067140529, ss3686048612, ss3724991007, ss3770780945, ss3798778035, ss3841788639, ss3943694210, ss4437323653, ss5236863406, ss5237158824 NC_000001.11:3883677:A:G NC_000001.11:3883677:A:G (self)
ss16413273 NT_004321.15:1107015:A:G NC_000001.11:3883677:A:G (self)
ss61706818 NT_004321.16:1107016:A:G NC_000001.11:3883677:A:G (self)
ss4434962, ss6396339, ss28508866, ss44065424, ss48426222, ss65734128, ss67292716, ss67696499, ss68218576, ss70771309, ss71346633, ss74957378, ss84156648, ss137764057, ss154256745, ss159433302, ss159695861, ss161249858, ss173574021 NT_004350.19:3278873:A:G NC_000001.11:3883677:A:G (self)
110116, ss3892932722 NC_000001.10:3800241:A:T NC_000001.11:3883677:A:T (self)
Help

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

No publications for rs3205087

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.post596+ae089ad