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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.

rs3750667

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:6233639 (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>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.256300 (67840/264690, TOPMED)
T=0.302457 (53703/177556, ALFA)
T=0.251591 (35274/140204, GnomAD) (+ 21 more)
T=0.41917 (11845/28258, 14KJPN)
T=0.41987 (7037/16760, 8.3KJPN)
T=0.2601 (1666/6404, 1000G_30x)
T=0.2630 (1317/5008, 1000G)
T=0.3699 (1657/4480, Estonian)
T=0.3280 (1264/3854, ALSPAC)
T=0.3320 (1231/3708, TWINSUK)
T=0.4706 (1379/2930, KOREAN)
T=0.3120 (644/2064, HGDP_Stanford)
T=0.4705 (862/1832, Korea1K)
T=0.2574 (399/1550, HapMap)
T=0.325 (324/998, GoNL)
T=0.498 (312/626, Chileans)
T=0.303 (182/600, NorthernSweden)
T=0.279 (149/534, MGP)
C=0.382 (100/262, SGDP_PRJ)
T=0.218 (47/216, Qatari)
T=0.350 (75/214, Vietnamese)
T=0.26 (24/92, Ancient Sardinia)
T=0.35 (14/40, GENOME_DK)
C=0.35 (9/26, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PFKFB3 : Non Coding Transcript 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 177556 C=0.697543 G=0.000000, T=0.302457
European Sub 156866 C=0.687918 G=0.000000, T=0.312082
African Sub 6786 C=0.9542 G=0.0000, T=0.0458
African Others Sub 224 C=0.982 G=0.000, T=0.018
African American Sub 6562 C=0.9532 G=0.0000, T=0.0468
Asian Sub 248 C=0.718 G=0.000, T=0.282
East Asian Sub 182 C=0.687 G=0.000, T=0.313
Other Asian Sub 66 C=0.80 G=0.00, T=0.20
Latin American 1 Sub 650 C=0.740 G=0.000, T=0.260
Latin American 2 Sub 3006 C=0.6317 G=0.0000, T=0.3683
South Asian Sub 4966 C=0.6867 G=0.0000, T=0.3133
Other Sub 5034 C=0.6951 G=0.0000, T=0.3049


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 C=0.743700 T=0.256300
Allele Frequency Aggregator Total Global 177556 C=0.697543 G=0.000000, T=0.302457
Allele Frequency Aggregator European Sub 156866 C=0.687918 G=0.000000, T=0.312082
Allele Frequency Aggregator African Sub 6786 C=0.9542 G=0.0000, T=0.0458
Allele Frequency Aggregator Other Sub 5034 C=0.6951 G=0.0000, T=0.3049
Allele Frequency Aggregator South Asian Sub 4966 C=0.6867 G=0.0000, T=0.3133
Allele Frequency Aggregator Latin American 2 Sub 3006 C=0.6317 G=0.0000, T=0.3683
Allele Frequency Aggregator Latin American 1 Sub 650 C=0.740 G=0.000, T=0.260
Allele Frequency Aggregator Asian Sub 248 C=0.718 G=0.000, T=0.282
gnomAD - Genomes Global Study-wide 140204 C=0.748409 T=0.251591
gnomAD - Genomes European Sub 75910 C=0.67829 T=0.32171
gnomAD - Genomes African Sub 42040 C=0.92215 T=0.07785
gnomAD - Genomes American Sub 13658 C=0.63787 T=0.36213
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.7441 T=0.2559
gnomAD - Genomes East Asian Sub 3120 C=0.6131 T=0.3869
gnomAD - Genomes Other Sub 2154 C=0.7321 T=0.2679
14KJPN JAPANESE Study-wide 28258 C=0.58083 T=0.41917
8.3KJPN JAPANESE Study-wide 16760 C=0.58013 T=0.41987
1000Genomes_30x Global Study-wide 6404 C=0.7399 T=0.2601
1000Genomes_30x African Sub 1786 C=0.9642 T=0.0358
1000Genomes_30x Europe Sub 1266 C=0.6801 T=0.3199
1000Genomes_30x South Asian Sub 1202 C=0.6639 T=0.3361
1000Genomes_30x East Asian Sub 1170 C=0.6573 T=0.3427
1000Genomes_30x American Sub 980 C=0.600 T=0.400
1000Genomes Global Study-wide 5008 C=0.7370 T=0.2630
1000Genomes African Sub 1322 C=0.9652 T=0.0348
1000Genomes East Asian Sub 1008 C=0.6548 T=0.3452
1000Genomes Europe Sub 1006 C=0.6869 T=0.3131
1000Genomes South Asian Sub 978 C=0.658 T=0.342
1000Genomes American Sub 694 C=0.605 T=0.395
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.6301 T=0.3699
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.6720 T=0.3280
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.6680 T=0.3320
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.5294 T=0.4706
HGDP-CEPH-db Supplement 1 Global Study-wide 2064 C=0.6880 T=0.3120
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.619 T=0.381
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 408 C=0.713 T=0.287
HGDP-CEPH-db Supplement 1 Middle_Est Sub 344 C=0.735 T=0.265
HGDP-CEPH-db Supplement 1 Europe Sub 314 C=0.707 T=0.293
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.971 T=0.029
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.306 T=0.694
HGDP-CEPH-db Supplement 1 Oceania Sub 70 C=0.89 T=0.11
Korean Genome Project KOREAN Study-wide 1832 C=0.5295 T=0.4705
HapMap Global Study-wide 1550 C=0.7426 T=0.2574
HapMap African Sub 566 C=0.936 T=0.064
HapMap American Sub 560 C=0.652 T=0.348
HapMap Asian Sub 252 C=0.556 T=0.444
HapMap Europe Sub 172 C=0.674 T=0.326
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.675 T=0.325
Chileans Chilean Study-wide 626 C=0.502 T=0.498
Northern Sweden ACPOP Study-wide 600 C=0.697 T=0.303
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.721 T=0.279
SGDP_PRJ Global Study-wide 262 C=0.382 T=0.618
Qatari Global Study-wide 216 C=0.782 T=0.218
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.650 T=0.350
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 92 C=0.74 T=0.26
The Danish reference pan genome Danish Study-wide 40 C=0.65 T=0.35
Siberian Global Study-wide 26 C=0.35 T=0.65
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 10 NC_000010.11:g.6233639C>G
GRCh38.p14 chr 10 NC_000010.11:g.6233639C>T
GRCh37.p13 chr 10 NC_000010.10:g.6275602C>G
GRCh37.p13 chr 10 NC_000010.10:g.6275602C>T
Gene: PFKFB3, 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PFKFB3 transcript variant 8 NM_001363545.2:c.1515+727…

NM_001363545.2:c.1515+7274C>G

N/A Intron Variant
PFKFB3 transcript variant 1 NM_004566.4:c.*697= N/A 3 Prime UTR Variant
PFKFB3 transcript variant 4 NM_001314063.2:c.*738= N/A 3 Prime UTR Variant
PFKFB3 transcript variant 2 NM_001145443.3:c.*697= N/A 3 Prime UTR Variant
PFKFB3 transcript variant 6 NM_001323017.2:c.*697= N/A 3 Prime UTR Variant
PFKFB3 transcript variant 5 NM_001323016.2:c.*738= N/A 3 Prime UTR Variant
PFKFB3 transcript variant 3 NM_001282630.3:c.*697= N/A 3 Prime UTR Variant
PFKFB3 transcript variant 7 NR_136554.2:n.2027C>G N/A Non Coding Transcript Variant
PFKFB3 transcript variant 7 NR_136554.2:n.2027C>T N/A Non Coding Transcript Variant
PFKFB3 transcript variant X2 XM_047425341.1:c.1455+727…

XM_047425341.1:c.1455+7274C>G

N/A Intron Variant
PFKFB3 transcript variant X1 XM_017016329.2:c.*697= N/A 3 Prime UTR Variant
PFKFB3 transcript variant X8 XM_005252464.2:c.*697= N/A 3 Prime UTR Variant
PFKFB3 transcript variant X10 XM_011519493.2:c.*697= N/A 3 Prime UTR Variant
PFKFB3 transcript variant X3 XM_047425342.1:c.*697= N/A 3 Prime UTR Variant
PFKFB3 transcript variant X4 XM_047425343.1:c.*697= N/A 3 Prime UTR Variant
PFKFB3 transcript variant X5 XM_047425344.1:c.*738= N/A 3 Prime UTR Variant
PFKFB3 transcript variant X6 XM_047425345.1:c.*697= N/A 3 Prime UTR Variant
PFKFB3 transcript variant X7 XM_047425346.1:c.*697= N/A 3 Prime UTR Variant
PFKFB3 transcript variant X9 XM_047425347.1:c.*697= N/A 3 Prime UTR Variant
PFKFB3 transcript variant X11 XM_047425349.1:c.*697= N/A 3 Prime UTR 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
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= G T
GRCh38.p14 chr 10 NC_000010.11:g.6233639= NC_000010.11:g.6233639C>G NC_000010.11:g.6233639C>T
GRCh37.p13 chr 10 NC_000010.10:g.6275602= NC_000010.10:g.6275602C>G NC_000010.10:g.6275602C>T
PFKFB3 transcript variant 1 NM_004566.4:c.*697= NM_004566.4:c.*697C>G NM_004566.4:c.*697C>T
PFKFB3 transcript variant 1 NM_004566.3:c.*697= NM_004566.3:c.*697C>G NM_004566.3:c.*697C>T
PFKFB3 transcript variant 3 NM_001282630.3:c.*697= NM_001282630.3:c.*697C>G NM_001282630.3:c.*697C>T
PFKFB3 transcript variant 3 NM_001282630.2:c.*697= NM_001282630.2:c.*697C>G NM_001282630.2:c.*697C>T
PFKFB3 transcript variant 3 NM_001282630.1:c.*697= NM_001282630.1:c.*697C>G NM_001282630.1:c.*697C>T
PFKFB3 transcript variant 2 NM_001145443.3:c.*697= NM_001145443.3:c.*697C>G NM_001145443.3:c.*697C>T
PFKFB3 transcript variant 2 NM_001145443.2:c.*697= NM_001145443.2:c.*697C>G NM_001145443.2:c.*697C>T
PFKFB3 transcript variant 2 NM_001145443.1:c.*697= NM_001145443.1:c.*697C>G NM_001145443.1:c.*697C>T
PFKFB3 transcript variant 6 NM_001323017.2:c.*697= NM_001323017.2:c.*697C>G NM_001323017.2:c.*697C>T
PFKFB3 transcript variant 6 NM_001323017.1:c.*697= NM_001323017.1:c.*697C>G NM_001323017.1:c.*697C>T
PFKFB3 transcript variant 4 NM_001314063.2:c.*738= NM_001314063.2:c.*738C>G NM_001314063.2:c.*738C>T
PFKFB3 transcript variant 4 NM_001314063.1:c.*738= NM_001314063.1:c.*738C>G NM_001314063.1:c.*738C>T
PFKFB3 transcript variant X1 XM_017016329.2:c.*697= XM_017016329.2:c.*697C>G XM_017016329.2:c.*697C>T
PFKFB3 transcript variant X5 XM_017016329.1:c.*697= XM_017016329.1:c.*697C>G XM_017016329.1:c.*697C>T
PFKFB3 transcript variant X8 XM_005252464.2:c.*697= XM_005252464.2:c.*697C>G XM_005252464.2:c.*697C>T
PFKFB3 transcript variant X6 XM_005252464.1:c.*697= XM_005252464.1:c.*697C>G XM_005252464.1:c.*697C>T
PFKFB3 transcript variant X10 XM_011519493.2:c.*697= XM_011519493.2:c.*697C>G XM_011519493.2:c.*697C>T
PFKFB3 transcript variant X7 XM_011519493.1:c.*697= XM_011519493.1:c.*697C>G XM_011519493.1:c.*697C>T
PFKFB3 transcript variant 5 NM_001323016.2:c.*738= NM_001323016.2:c.*738C>G NM_001323016.2:c.*738C>T
PFKFB3 transcript variant 5 NM_001323016.1:c.*738= NM_001323016.1:c.*738C>G NM_001323016.1:c.*738C>T
PFKFB3 transcript variant 7 NR_136554.2:n.2027= NR_136554.2:n.2027C>G NR_136554.2:n.2027C>T
PFKFB3 transcript variant 7 NR_136554.1:n.2070= NR_136554.1:n.2070C>G NR_136554.1:n.2070C>T
PFKFB3 transcript variant X5 XM_047425344.1:c.*738= XM_047425344.1:c.*738C>G XM_047425344.1:c.*738C>T
PFKFB3 transcript variant X3 XM_047425342.1:c.*697= XM_047425342.1:c.*697C>G XM_047425342.1:c.*697C>T
PFKFB3 transcript variant X6 XM_047425345.1:c.*697= XM_047425345.1:c.*697C>G XM_047425345.1:c.*697C>T
PFKFB3 transcript variant X4 XM_047425343.1:c.*697= XM_047425343.1:c.*697C>G XM_047425343.1:c.*697C>T
PFKFB3 transcript variant X7 XM_047425346.1:c.*697= XM_047425346.1:c.*697C>G XM_047425346.1:c.*697C>T
PFKFB3 transcript variant X9 XM_047425347.1:c.*697= XM_047425347.1:c.*697C>G XM_047425347.1:c.*697C>T
PFKFB3 transcript variant X11 XM_047425349.1:c.*697= XM_047425349.1:c.*697C>G XM_047425349.1:c.*697C>T
PFKFB3 transcript variant 8 NM_001363545.2:c.1515+7274= NM_001363545.2:c.1515+7274C>G NM_001363545.2:c.1515+7274C>T
PFKFB3 transcript variant X2 XM_047425341.1:c.1455+7274= XM_047425341.1:c.1455+7274C>G XM_047425341.1:c.1455+7274C>T
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#.

123 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss4936694 Aug 28, 2002 (107)
2 SC_SNP ss15483148 Feb 27, 2004 (120)
3 CGAP-GAI ss16230394 Feb 27, 2004 (120)
4 CSHL-HAPMAP ss16501410 Feb 27, 2004 (120)
5 PERLEGEN ss24532363 Sep 20, 2004 (123)
6 ABI ss38524722 Mar 13, 2006 (126)
7 IMCJ-GDT ss46564233 Mar 13, 2006 (126)
8 AFFY ss66200138 Dec 02, 2006 (127)
9 ILLUMINA ss66648798 Dec 02, 2006 (127)
10 ILLUMINA ss67299475 Dec 02, 2006 (127)
11 ILLUMINA ss67704129 Dec 02, 2006 (127)
12 PERLEGEN ss69068713 May 18, 2007 (127)
13 ILLUMINA ss70778105 May 26, 2008 (130)
14 ILLUMINA ss71354298 May 18, 2007 (127)
15 ILLUMINA ss75534257 Dec 06, 2007 (129)
16 AFFY ss76286555 Dec 06, 2007 (129)
17 SI_EXO ss76883832 Dec 06, 2007 (129)
18 ILLUMINA ss79164730 Dec 15, 2007 (130)
19 HGSV ss83876442 Dec 15, 2007 (130)
20 KRIBB_YJKIM ss84168380 Dec 15, 2007 (130)
21 BCMHGSC_JDW ss88080771 Mar 23, 2008 (129)
22 BGI ss106653264 Feb 06, 2009 (130)
23 1000GENOMES ss109197120 Jan 23, 2009 (130)
24 ILLUMINA ss122208114 Dec 01, 2009 (131)
25 ENSEMBL ss131661607 Dec 01, 2009 (131)
26 ILLUMINA ss154265341 Dec 01, 2009 (131)
27 GMI ss158141888 Dec 01, 2009 (131)
28 ILLUMINA ss159442165 Dec 01, 2009 (131)
29 ILLUMINA ss160636327 Dec 01, 2009 (131)
30 ENSEMBL ss161352369 Dec 01, 2009 (131)
31 COMPLETE_GENOMICS ss167742237 Jul 04, 2010 (132)
32 COMPLETE_GENOMICS ss170368419 Jul 04, 2010 (132)
33 ILLUMINA ss171627914 Jul 04, 2010 (132)
34 ILLUMINA ss173623439 Jul 04, 2010 (132)
35 BCM-HGSC-SUB ss207423509 Jul 04, 2010 (132)
36 1000GENOMES ss224544382 Jul 14, 2010 (132)
37 1000GENOMES ss235037946 Jul 15, 2010 (132)
38 1000GENOMES ss241773752 Jul 15, 2010 (132)
39 BL ss254025410 May 09, 2011 (134)
40 GMI ss280464593 May 04, 2012 (137)
41 GMI ss286122408 Apr 25, 2013 (138)
42 PJP ss290900079 May 09, 2011 (134)
43 ILLUMINA ss480815228 May 04, 2012 (137)
44 ILLUMINA ss480830894 May 04, 2012 (137)
45 ILLUMINA ss481760099 Sep 08, 2015 (146)
46 ILLUMINA ss485202423 May 04, 2012 (137)
47 SSMP ss656251411 Apr 25, 2013 (138)
48 ILLUMINA ss783047200 Sep 08, 2015 (146)
49 ILLUMINA ss825495248 Apr 01, 2015 (144)
50 ILLUMINA ss832304997 Sep 08, 2015 (146)
51 ILLUMINA ss832953735 Jul 13, 2019 (153)
52 EVA-GONL ss987156978 Aug 21, 2014 (142)
53 JMKIDD_LAB ss1076731438 Aug 21, 2014 (142)
54 1000GENOMES ss1336128952 Aug 21, 2014 (142)
55 DDI ss1426208732 Apr 01, 2015 (144)
56 EVA_GENOME_DK ss1574889105 Apr 01, 2015 (144)
57 EVA_DECODE ss1596804905 Apr 01, 2015 (144)
58 EVA_UK10K_ALSPAC ss1623911092 Apr 01, 2015 (144)
59 EVA_UK10K_TWINSUK ss1666905125 Apr 01, 2015 (144)
60 EVA_MGP ss1711246956 Apr 01, 2015 (144)
61 EVA_SVP ss1713154060 Apr 01, 2015 (144)
62 ILLUMINA ss1751975034 Sep 08, 2015 (146)
63 WEILL_CORNELL_DGM ss1930477871 Feb 12, 2016 (147)
64 GENOMED ss1967049442 Jul 19, 2016 (147)
65 JJLAB ss2025962055 Sep 14, 2016 (149)
66 USC_VALOUEV ss2154204080 Dec 20, 2016 (150)
67 HUMAN_LONGEVITY ss2172356114 Dec 20, 2016 (150)
68 SYSTEMSBIOZJU ss2627449890 Nov 08, 2017 (151)
69 ILLUMINA ss2632669744 Nov 08, 2017 (151)
70 ILLUMINA ss2635011050 Nov 08, 2017 (151)
71 GRF ss2698427946 Nov 08, 2017 (151)
72 ILLUMINA ss2710701776 Nov 08, 2017 (151)
73 GNOMAD ss2885102032 Nov 08, 2017 (151)
74 SWEGEN ss3005875117 Nov 08, 2017 (151)
75 ILLUMINA ss3021210791 Nov 08, 2017 (151)
76 BIOINF_KMB_FNS_UNIBA ss3026764545 Nov 08, 2017 (151)
77 CSHL ss3348941787 Nov 08, 2017 (151)
78 ILLUMINA ss3633633590 Oct 12, 2018 (152)
79 ILLUMINA ss3634388379 Oct 12, 2018 (152)
80 ILLUMINA ss3635326427 Oct 12, 2018 (152)
81 ILLUMINA ss3636068186 Oct 12, 2018 (152)
82 ILLUMINA ss3637077011 Oct 12, 2018 (152)
83 ILLUMINA ss3637831813 Oct 12, 2018 (152)
84 ILLUMINA ss3638931179 Oct 12, 2018 (152)
85 ILLUMINA ss3639464906 Oct 12, 2018 (152)
86 ILLUMINA ss3640095727 Oct 12, 2018 (152)
87 ILLUMINA ss3642836711 Oct 12, 2018 (152)
88 OMUKHERJEE_ADBS ss3646402462 Oct 12, 2018 (152)
89 ILLUMINA ss3651558692 Oct 12, 2018 (152)
90 EGCUT_WGS ss3673402202 Jul 13, 2019 (153)
91 EVA_DECODE ss3689205875 Jul 13, 2019 (153)
92 ILLUMINA ss3725132297 Jul 13, 2019 (153)
93 ACPOP ss3737026588 Jul 13, 2019 (153)
94 ILLUMINA ss3744689253 Jul 13, 2019 (153)
95 EVA ss3747699255 Jul 13, 2019 (153)
96 ILLUMINA ss3772189966 Jul 13, 2019 (153)
97 KHV_HUMAN_GENOMES ss3813062266 Jul 13, 2019 (153)
98 EVA ss3825770776 Apr 26, 2020 (154)
99 EVA ss3831946860 Apr 26, 2020 (154)
100 EVA ss3839504244 Apr 26, 2020 (154)
101 EVA ss3844970225 Apr 26, 2020 (154)
102 HGDP ss3847374054 Apr 26, 2020 (154)
103 SGDP_PRJ ss3873452871 Apr 26, 2020 (154)
104 KRGDB ss3921388165 Apr 26, 2020 (154)
105 KOGIC ss3967130685 Apr 26, 2020 (154)
106 FSA-LAB ss3983972402 Apr 26, 2021 (155)
107 EVA ss3985455276 Apr 26, 2021 (155)
108 EVA ss4017468450 Apr 26, 2021 (155)
109 TOPMED ss4841234035 Apr 26, 2021 (155)
110 TOMMO_GENOMICS ss5196095394 Apr 26, 2021 (155)
111 1000G_HIGH_COVERAGE ss5282788147 Oct 16, 2022 (156)
112 EVA ss5315447968 Oct 16, 2022 (156)
113 EVA ss5391359119 Oct 16, 2022 (156)
114 HUGCELL_USP ss5478579374 Oct 16, 2022 (156)
115 1000G_HIGH_COVERAGE ss5576114937 Oct 16, 2022 (156)
116 SANFORD_IMAGENETICS ss5648601324 Oct 16, 2022 (156)
117 TOMMO_GENOMICS ss5740894228 Oct 16, 2022 (156)
118 EVA ss5799802171 Oct 16, 2022 (156)
119 YY_MCH ss5811162365 Oct 16, 2022 (156)
120 EVA ss5823922819 Oct 16, 2022 (156)
121 EVA ss5849420597 Oct 16, 2022 (156)
122 EVA ss5877588531 Oct 16, 2022 (156)
123 EVA ss5939882506 Oct 16, 2022 (156)
124 1000Genomes NC_000010.10 - 6275602 Oct 12, 2018 (152)
125 1000Genomes_30x NC_000010.11 - 6233639 Oct 16, 2022 (156)
126 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 6275602 Oct 12, 2018 (152)
127 Chileans NC_000010.10 - 6275602 Apr 26, 2020 (154)
128 Genetic variation in the Estonian population NC_000010.10 - 6275602 Oct 12, 2018 (152)
129 The Danish reference pan genome NC_000010.10 - 6275602 Apr 26, 2020 (154)
130 gnomAD - Genomes NC_000010.11 - 6233639 Apr 26, 2021 (155)
131 Genome of the Netherlands Release 5 NC_000010.10 - 6275602 Apr 26, 2020 (154)
132 HGDP-CEPH-db Supplement 1 NC_000010.9 - 6315608 Apr 26, 2020 (154)
133 HapMap NC_000010.11 - 6233639 Apr 26, 2020 (154)
134 KOREAN population from KRGDB NC_000010.10 - 6275602 Apr 26, 2020 (154)
135 Korean Genome Project NC_000010.11 - 6233639 Apr 26, 2020 (154)
136 Medical Genome Project healthy controls from Spanish population NC_000010.10 - 6275602 Apr 26, 2020 (154)
137 Northern Sweden NC_000010.10 - 6275602 Jul 13, 2019 (153)
138 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000010.10 - 6275602 Apr 26, 2021 (155)
139 Qatari NC_000010.10 - 6275602 Apr 26, 2020 (154)
140 SGDP_PRJ NC_000010.10 - 6275602 Apr 26, 2020 (154)
141 Siberian NC_000010.10 - 6275602 Apr 26, 2020 (154)
142 8.3KJPN NC_000010.10 - 6275602 Apr 26, 2021 (155)
143 14KJPN NC_000010.11 - 6233639 Oct 16, 2022 (156)
144 TopMed NC_000010.11 - 6233639 Apr 26, 2021 (155)
145 UK 10K study - Twins NC_000010.10 - 6275602 Oct 12, 2018 (152)
146 A Vietnamese Genetic Variation Database NC_000010.10 - 6275602 Jul 13, 2019 (153)
147 ALFA NC_000010.11 - 6233639 Apr 26, 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)
rs17361633 Oct 08, 2004 (123)
rs60905933 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
2897057049 NC_000010.11:6233638:C:G NC_000010.11:6233638:C:G (self)
ss83876442, ss3638931179, ss3639464906 NC_000010.8:6315607:C:T NC_000010.11:6233638:C:T (self)
51946, ss66200138, ss76286555, ss88080771, ss109197120, ss167742237, ss170368419, ss207423509, ss254025410, ss280464593, ss286122408, ss290900079, ss480815228, ss825495248, ss1596804905, ss1713154060, ss2635011050, ss3642836711, ss3847374054 NC_000010.9:6315607:C:T NC_000010.11:6233638:C:T (self)
48470223, 26931424, 41143, 19140450, 2014310, 12011873, 28565559, 362716, 10311453, 681203, 12519801, 25469851, 6720434, 54064701, 26931424, 5978423, ss224544382, ss235037946, ss241773752, ss480830894, ss481760099, ss485202423, ss656251411, ss783047200, ss832304997, ss832953735, ss987156978, ss1076731438, ss1336128952, ss1426208732, ss1574889105, ss1623911092, ss1666905125, ss1711246956, ss1751975034, ss1930477871, ss1967049442, ss2025962055, ss2154204080, ss2627449890, ss2632669744, ss2698427946, ss2710701776, ss2885102032, ss3005875117, ss3021210791, ss3348941787, ss3633633590, ss3634388379, ss3635326427, ss3636068186, ss3637077011, ss3637831813, ss3640095727, ss3646402462, ss3651558692, ss3673402202, ss3737026588, ss3744689253, ss3747699255, ss3772189966, ss3825770776, ss3831946860, ss3839504244, ss3873452871, ss3921388165, ss3983972402, ss3985455276, ss4017468450, ss5196095394, ss5315447968, ss5391359119, ss5648601324, ss5799802171, ss5823922819, ss5939882506 NC_000010.10:6275601:C:T NC_000010.11:6233638:C:T (self)
63640872, 342407903, 329979, 23508686, 74731332, 56779690, 2897057049, ss2172356114, ss3026764545, ss3689205875, ss3725132297, ss3813062266, ss3844970225, ss3967130685, ss4841234035, ss5282788147, ss5478579374, ss5576114937, ss5740894228, ss5811162365, ss5849420597, ss5877588531 NC_000010.11:6233638:C:T NC_000010.11:6233638:C:T (self)
ss4936694, ss16230394, ss24532363, ss38524722, ss46564233, ss66648798, ss67299475, ss67704129, ss69068713, ss70778105, ss71354298, ss75534257, ss79164730, ss84168380, ss106653264, ss122208114, ss131661607, ss154265341, ss158141888, ss159442165, ss160636327, ss161352369, ss171627914, ss173623439 NT_008705.16:6215601:C:T NC_000010.11:6233638:C:T (self)
ss15483148, ss16501410, ss76883832 NT_077569.2:638497:C:T NC_000010.11:6233638: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.

No publications for rs3750667

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