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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.

rs1539232

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:6233182 (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>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.489323 (129519/264690, TOPMED)
T=0.476453 (66670/139930, GnomAD)
T=0.43287 (42088/97230, ALFA) (+ 19 more)
C=0.12913 (3649/28258, 14KJPN)
C=0.12798 (2145/16760, 8.3KJPN)
C=0.4275 (2738/6404, 1000G_30x)
C=0.4245 (2126/5008, 1000G)
T=0.4763 (2134/4480, Estonian)
T=0.4253 (1639/3854, ALSPAC)
T=0.4261 (1580/3708, TWINSUK)
C=0.2014 (590/2930, KOREAN)
C=0.4463 (930/2084, HGDP_Stanford)
C=0.4059 (768/1892, HapMap)
C=0.2205 (404/1832, Korea1K)
T=0.423 (422/998, GoNL)
T=0.420 (252/600, NorthernSweden)
T=0.326 (120/368, SGDP_PRJ)
T=0.394 (85/216, Qatari)
C=0.294 (63/214, Vietnamese)
T=0.36 (26/72, Ancient Sardinia)
T=0.38 (15/40, GENOME_DK)
T=0.29 (10/34, 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 97230 T=0.43287 C=0.56713
European Sub 83144 T=0.41661 C=0.58339
African Sub 4722 T=0.5235 C=0.4765
African Others Sub 180 T=0.567 C=0.433
African American Sub 4542 T=0.5218 C=0.4782
Asian Sub 246 T=0.776 C=0.224
East Asian Sub 204 T=0.775 C=0.225
Other Asian Sub 42 T=0.79 C=0.21
Latin American 1 Sub 268 T=0.444 C=0.556
Latin American 2 Sub 1316 T=0.6231 C=0.3769
South Asian Sub 4972 T=0.5418 C=0.4582
Other Sub 2562 T=0.4500 C=0.5500


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 T=0.489323 C=0.510677
gnomAD - Genomes Global Study-wide 139930 T=0.476453 C=0.523547
gnomAD - Genomes European Sub 75782 T=0.43084 C=0.56916
gnomAD - Genomes African Sub 41924 T=0.53547 C=0.46453
gnomAD - Genomes American Sub 13638 T=0.53908 C=0.46092
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.2992 C=0.7008
gnomAD - Genomes East Asian Sub 3118 T=0.7322 C=0.2678
gnomAD - Genomes Other Sub 2146 T=0.4390 C=0.5610
Allele Frequency Aggregator Total Global 97230 T=0.43287 C=0.56713
Allele Frequency Aggregator European Sub 83144 T=0.41661 C=0.58339
Allele Frequency Aggregator South Asian Sub 4972 T=0.5418 C=0.4582
Allele Frequency Aggregator African Sub 4722 T=0.5235 C=0.4765
Allele Frequency Aggregator Other Sub 2562 T=0.4500 C=0.5500
Allele Frequency Aggregator Latin American 2 Sub 1316 T=0.6231 C=0.3769
Allele Frequency Aggregator Latin American 1 Sub 268 T=0.444 C=0.556
Allele Frequency Aggregator Asian Sub 246 T=0.776 C=0.224
14KJPN JAPANESE Study-wide 28258 T=0.87087 C=0.12913
8.3KJPN JAPANESE Study-wide 16760 T=0.87202 C=0.12798
1000Genomes_30x Global Study-wide 6404 T=0.5725 C=0.4275
1000Genomes_30x African Sub 1786 T=0.5756 C=0.4244
1000Genomes_30x Europe Sub 1266 T=0.4179 C=0.5821
1000Genomes_30x South Asian Sub 1202 T=0.6131 C=0.3869
1000Genomes_30x East Asian Sub 1170 T=0.7274 C=0.2726
1000Genomes_30x American Sub 980 T=0.532 C=0.468
1000Genomes Global Study-wide 5008 T=0.5755 C=0.4245
1000Genomes African Sub 1322 T=0.5787 C=0.4213
1000Genomes East Asian Sub 1008 T=0.7312 C=0.2688
1000Genomes Europe Sub 1006 T=0.4145 C=0.5855
1000Genomes South Asian Sub 978 T=0.607 C=0.393
1000Genomes American Sub 694 T=0.532 C=0.468
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.4763 C=0.5237
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.4253 C=0.5747
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.4261 C=0.5739
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.7986 A=0.0000, C=0.2014
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.5537 C=0.4463
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.717 C=0.283
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.510 C=0.490
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.389 C=0.611
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.391 C=0.609
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.541 C=0.459
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.903 C=0.097
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.26 C=0.74
HapMap Global Study-wide 1892 T=0.5941 C=0.4059
HapMap American Sub 770 T=0.578 C=0.422
HapMap African Sub 692 T=0.562 C=0.438
HapMap Asian Sub 254 T=0.850 C=0.150
HapMap Europe Sub 176 T=0.420 C=0.580
Korean Genome Project KOREAN Study-wide 1832 T=0.7795 C=0.2205
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.423 C=0.577
Northern Sweden ACPOP Study-wide 600 T=0.420 C=0.580
SGDP_PRJ Global Study-wide 368 T=0.326 C=0.674
Qatari Global Study-wide 216 T=0.394 C=0.606
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.706 C=0.294
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 72 T=0.36 C=0.64
The Danish reference pan genome Danish Study-wide 40 T=0.38 C=0.62
Siberian Global Study-wide 34 T=0.29 C=0.71
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.6233182T>A
GRCh38.p14 chr 10 NC_000010.11:g.6233182T>C
GRCh37.p13 chr 10 NC_000010.10:g.6275145T>A
GRCh37.p13 chr 10 NC_000010.10:g.6275145T>C
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+681…

NM_001363545.2:c.1515+6817T>A

N/A Intron Variant
PFKFB3 transcript variant 1 NM_004566.4:c.*240= N/A 3 Prime UTR Variant
PFKFB3 transcript variant 4 NM_001314063.2:c.*281= N/A 3 Prime UTR Variant
PFKFB3 transcript variant 2 NM_001145443.3:c.*240= N/A 3 Prime UTR Variant
PFKFB3 transcript variant 6 NM_001323017.2:c.*240= N/A 3 Prime UTR Variant
PFKFB3 transcript variant 5 NM_001323016.2:c.*281= N/A 3 Prime UTR Variant
PFKFB3 transcript variant 3 NM_001282630.3:c.*240= N/A 3 Prime UTR Variant
PFKFB3 transcript variant 7 NR_136554.2:n.1570T>A N/A Non Coding Transcript Variant
PFKFB3 transcript variant 7 NR_136554.2:n.1570T>C N/A Non Coding Transcript Variant
PFKFB3 transcript variant X2 XM_047425341.1:c.1455+681…

XM_047425341.1:c.1455+6817T>A

N/A Intron Variant
PFKFB3 transcript variant X1 XM_017016329.2:c.*240= N/A 3 Prime UTR Variant
PFKFB3 transcript variant X8 XM_005252464.2:c.*240= N/A 3 Prime UTR Variant
PFKFB3 transcript variant X10 XM_011519493.2:c.*240= N/A 3 Prime UTR Variant
PFKFB3 transcript variant X3 XM_047425342.1:c.*240= N/A 3 Prime UTR Variant
PFKFB3 transcript variant X4 XM_047425343.1:c.*240= N/A 3 Prime UTR Variant
PFKFB3 transcript variant X5 XM_047425344.1:c.*281= N/A 3 Prime UTR Variant
PFKFB3 transcript variant X6 XM_047425345.1:c.*240= N/A 3 Prime UTR Variant
PFKFB3 transcript variant X7 XM_047425346.1:c.*240= N/A 3 Prime UTR Variant
PFKFB3 transcript variant X9 XM_047425347.1:c.*240= N/A 3 Prime UTR Variant
PFKFB3 transcript variant X11 XM_047425349.1:c.*240= 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 T= A C
GRCh38.p14 chr 10 NC_000010.11:g.6233182= NC_000010.11:g.6233182T>A NC_000010.11:g.6233182T>C
GRCh37.p13 chr 10 NC_000010.10:g.6275145= NC_000010.10:g.6275145T>A NC_000010.10:g.6275145T>C
PFKFB3 transcript variant 1 NM_004566.4:c.*240= NM_004566.4:c.*240T>A NM_004566.4:c.*240T>C
PFKFB3 transcript variant 1 NM_004566.3:c.*240= NM_004566.3:c.*240T>A NM_004566.3:c.*240T>C
PFKFB3 transcript variant 3 NM_001282630.3:c.*240= NM_001282630.3:c.*240T>A NM_001282630.3:c.*240T>C
PFKFB3 transcript variant 3 NM_001282630.2:c.*240= NM_001282630.2:c.*240T>A NM_001282630.2:c.*240T>C
PFKFB3 transcript variant 3 NM_001282630.1:c.*240= NM_001282630.1:c.*240T>A NM_001282630.1:c.*240T>C
PFKFB3 transcript variant 2 NM_001145443.3:c.*240= NM_001145443.3:c.*240T>A NM_001145443.3:c.*240T>C
PFKFB3 transcript variant 2 NM_001145443.2:c.*240= NM_001145443.2:c.*240T>A NM_001145443.2:c.*240T>C
PFKFB3 transcript variant 2 NM_001145443.1:c.*240= NM_001145443.1:c.*240T>A NM_001145443.1:c.*240T>C
PFKFB3 transcript variant 6 NM_001323017.2:c.*240= NM_001323017.2:c.*240T>A NM_001323017.2:c.*240T>C
PFKFB3 transcript variant 6 NM_001323017.1:c.*240= NM_001323017.1:c.*240T>A NM_001323017.1:c.*240T>C
PFKFB3 transcript variant 4 NM_001314063.2:c.*281= NM_001314063.2:c.*281T>A NM_001314063.2:c.*281T>C
PFKFB3 transcript variant 4 NM_001314063.1:c.*281= NM_001314063.1:c.*281T>A NM_001314063.1:c.*281T>C
PFKFB3 transcript variant X1 XM_017016329.2:c.*240= XM_017016329.2:c.*240T>A XM_017016329.2:c.*240T>C
PFKFB3 transcript variant X5 XM_017016329.1:c.*240= XM_017016329.1:c.*240T>A XM_017016329.1:c.*240T>C
PFKFB3 transcript variant X8 XM_005252464.2:c.*240= XM_005252464.2:c.*240T>A XM_005252464.2:c.*240T>C
PFKFB3 transcript variant X6 XM_005252464.1:c.*240= XM_005252464.1:c.*240T>A XM_005252464.1:c.*240T>C
PFKFB3 transcript variant X10 XM_011519493.2:c.*240= XM_011519493.2:c.*240T>A XM_011519493.2:c.*240T>C
PFKFB3 transcript variant X7 XM_011519493.1:c.*240= XM_011519493.1:c.*240T>A XM_011519493.1:c.*240T>C
PFKFB3 transcript variant 5 NM_001323016.2:c.*281= NM_001323016.2:c.*281T>A NM_001323016.2:c.*281T>C
PFKFB3 transcript variant 5 NM_001323016.1:c.*281= NM_001323016.1:c.*281T>A NM_001323016.1:c.*281T>C
PFKFB3 transcript variant 7 NR_136554.2:n.1570= NR_136554.2:n.1570T>A NR_136554.2:n.1570T>C
PFKFB3 transcript variant 7 NR_136554.1:n.1613= NR_136554.1:n.1613T>A NR_136554.1:n.1613T>C
PFKFB3 transcript variant X5 XM_047425344.1:c.*281= XM_047425344.1:c.*281T>A XM_047425344.1:c.*281T>C
PFKFB3 transcript variant X3 XM_047425342.1:c.*240= XM_047425342.1:c.*240T>A XM_047425342.1:c.*240T>C
PFKFB3 transcript variant X6 XM_047425345.1:c.*240= XM_047425345.1:c.*240T>A XM_047425345.1:c.*240T>C
PFKFB3 transcript variant X4 XM_047425343.1:c.*240= XM_047425343.1:c.*240T>A XM_047425343.1:c.*240T>C
PFKFB3 transcript variant X7 XM_047425346.1:c.*240= XM_047425346.1:c.*240T>A XM_047425346.1:c.*240T>C
PFKFB3 transcript variant X9 XM_047425347.1:c.*240= XM_047425347.1:c.*240T>A XM_047425347.1:c.*240T>C
PFKFB3 transcript variant X11 XM_047425349.1:c.*240= XM_047425349.1:c.*240T>A XM_047425349.1:c.*240T>C
PFKFB3 transcript variant 8 NM_001363545.2:c.1515+6817= NM_001363545.2:c.1515+6817T>A NM_001363545.2:c.1515+6817T>C
PFKFB3 transcript variant X2 XM_047425341.1:c.1455+6817= XM_047425341.1:c.1455+6817T>A XM_047425341.1:c.1455+6817T>C
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#.

109 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2380855 Oct 23, 2000 (88)
2 YUSUKE ss4936693 Aug 28, 2002 (108)
3 SC_JCM ss6213905 Feb 20, 2003 (111)
4 ABI ss38594368 Mar 13, 2006 (126)
5 IMCJ-GDT ss46564215 Mar 13, 2006 (126)
6 ILLUMINA ss66770869 Nov 30, 2006 (127)
7 ILLUMINA ss67128298 Nov 30, 2006 (127)
8 ILLUMINA ss67467621 Nov 30, 2006 (127)
9 ILLUMINA ss70441391 May 17, 2007 (127)
10 ILLUMINA ss70630084 May 23, 2008 (130)
11 ILLUMINA ss71180005 May 17, 2007 (127)
12 SI_EXO ss71642805 May 17, 2007 (127)
13 ILLUMINA ss75798869 Dec 06, 2007 (129)
14 KRIBB_YJKIM ss83823764 Dec 14, 2007 (130)
15 HGSV ss84151404 Dec 14, 2007 (130)
16 BCMHGSC_JDW ss88080766 Mar 23, 2008 (129)
17 HUMANGENOME_JCVI ss97618000 Feb 04, 2009 (130)
18 1000GENOMES ss109197101 Jan 23, 2009 (130)
19 1000GENOMES ss115305052 Jan 25, 2009 (130)
20 ILLUMINA-UK ss119003589 Feb 15, 2009 (130)
21 ILLUMINA ss121741916 Dec 01, 2009 (131)
22 ENSEMBL ss131661601 Dec 01, 2009 (131)
23 ILLUMINA ss153501072 Dec 01, 2009 (131)
24 ILLUMINA ss159282268 Dec 01, 2009 (131)
25 COMPLETE_GENOMICS ss168978065 Jul 04, 2010 (132)
26 COMPLETE_GENOMICS ss170368390 Jul 04, 2010 (132)
27 ILLUMINA ss170623962 Jul 04, 2010 (132)
28 ILLUMINA ss172567067 Jul 04, 2010 (132)
29 BUSHMAN ss201096992 Jul 04, 2010 (132)
30 BCM-HGSC-SUB ss207434872 Jul 04, 2010 (132)
31 1000GENOMES ss224544376 Jul 14, 2010 (132)
32 1000GENOMES ss235037941 Jul 15, 2010 (132)
33 1000GENOMES ss241773748 Jul 15, 2010 (132)
34 PJP ss290900076 May 09, 2011 (134)
35 ILLUMINA ss482626023 May 04, 2012 (137)
36 ILLUMINA ss483306566 May 04, 2012 (137)
37 ILLUMINA ss535521881 Sep 08, 2015 (146)
38 TISHKOFF ss561745207 Apr 25, 2013 (138)
39 SSMP ss656251406 Apr 25, 2013 (138)
40 ILLUMINA ss780227966 Sep 08, 2015 (146)
41 ILLUMINA ss782096362 Sep 08, 2015 (146)
42 ILLUMINA ss825410375 Apr 01, 2015 (144)
43 ILLUMINA ss832794404 Jul 13, 2019 (153)
44 ILLUMINA ss835713149 Sep 08, 2015 (146)
45 EVA-GONL ss987156971 Aug 21, 2014 (142)
46 JMKIDD_LAB ss1076731432 Aug 21, 2014 (142)
47 1000GENOMES ss1336128938 Aug 21, 2014 (142)
48 DDI ss1426208726 Apr 01, 2015 (144)
49 EVA_GENOME_DK ss1574889101 Apr 01, 2015 (144)
50 EVA_DECODE ss1596804898 Apr 01, 2015 (144)
51 EVA_UK10K_ALSPAC ss1623911081 Apr 01, 2015 (144)
52 EVA_UK10K_TWINSUK ss1666905114 Apr 01, 2015 (144)
53 EVA_SVP ss1713154059 Apr 01, 2015 (144)
54 HAMMER_LAB ss1806238121 Sep 08, 2015 (146)
55 WEILL_CORNELL_DGM ss1930477863 Feb 12, 2016 (147)
56 JJLAB ss2025962050 Sep 14, 2016 (149)
57 USC_VALOUEV ss2154204077 Dec 20, 2016 (150)
58 HUMAN_LONGEVITY ss2172356085 Dec 20, 2016 (150)
59 SYSTEMSBIOZJU ss2627449888 Nov 08, 2017 (151)
60 ILLUMINA ss2632669739 Nov 08, 2017 (151)
61 GRF ss2698427944 Nov 08, 2017 (151)
62 ILLUMINA ss2710701775 Nov 08, 2017 (151)
63 GNOMAD ss2885101988 Nov 08, 2017 (151)
64 SWEGEN ss3005875109 Nov 08, 2017 (151)
65 BIOINF_KMB_FNS_UNIBA ss3026764542 Nov 08, 2017 (151)
66 CSHL ss3348941782 Nov 08, 2017 (151)
67 ILLUMINA ss3626378069 Oct 12, 2018 (152)
68 ILLUMINA ss3630697650 Oct 12, 2018 (152)
69 ILLUMINA ss3637831809 Oct 12, 2018 (152)
70 ILLUMINA ss3638931178 Oct 12, 2018 (152)
71 ILLUMINA ss3639464905 Oct 12, 2018 (152)
72 ILLUMINA ss3641659067 Oct 12, 2018 (152)
73 ILLUMINA ss3642836710 Oct 12, 2018 (152)
74 OMUKHERJEE_ADBS ss3646402458 Oct 12, 2018 (152)
75 URBANLAB ss3649280380 Oct 12, 2018 (152)
76 EGCUT_WGS ss3673402191 Jul 13, 2019 (153)
77 EVA_DECODE ss3689205866 Jul 13, 2019 (153)
78 ACPOP ss3737026583 Jul 13, 2019 (153)
79 EVA ss3747699249 Jul 13, 2019 (153)
80 PACBIO ss3786570073 Jul 13, 2019 (153)
81 PACBIO ss3791763986 Jul 13, 2019 (153)
82 PACBIO ss3796645763 Jul 13, 2019 (153)
83 KHV_HUMAN_GENOMES ss3813062260 Jul 13, 2019 (153)
84 EVA ss3831946855 Apr 26, 2020 (154)
85 EVA ss3839504239 Apr 26, 2020 (154)
86 EVA ss3844970220 Apr 26, 2020 (154)
87 HGDP ss3847374053 Apr 26, 2020 (154)
88 SGDP_PRJ ss3873452864 Apr 26, 2020 (154)
89 KRGDB ss3921388154 Apr 26, 2020 (154)
90 KOGIC ss3967130673 Apr 26, 2020 (154)
91 FSA-LAB ss3983972399 Apr 26, 2021 (155)
92 EVA ss3985455275 Apr 26, 2021 (155)
93 EVA ss3986049059 Apr 26, 2021 (155)
94 EVA ss4017468449 Apr 26, 2021 (155)
95 TOPMED ss4841233903 Apr 26, 2021 (155)
96 TOMMO_GENOMICS ss5196095366 Apr 26, 2021 (155)
97 1000G_HIGH_COVERAGE ss5282788134 Oct 16, 2022 (156)
98 EVA ss5315447963 Oct 16, 2022 (156)
99 EVA ss5391359096 Oct 16, 2022 (156)
100 HUGCELL_USP ss5478579362 Oct 16, 2022 (156)
101 1000G_HIGH_COVERAGE ss5576114917 Oct 16, 2022 (156)
102 SANFORD_IMAGENETICS ss5648601315 Oct 16, 2022 (156)
103 TOMMO_GENOMICS ss5740894199 Oct 16, 2022 (156)
104 YY_MCH ss5811162359 Oct 16, 2022 (156)
105 EVA ss5823922810 Oct 16, 2022 (156)
106 EVA ss5849420595 Oct 16, 2022 (156)
107 EVA ss5877588517 Oct 16, 2022 (156)
108 EVA ss5939882497 Oct 16, 2022 (156)
109 EVA ss5980592454 Oct 16, 2022 (156)
110 1000Genomes NC_000010.10 - 6275145 Oct 12, 2018 (152)
111 1000Genomes_30x NC_000010.11 - 6233182 Oct 16, 2022 (156)
112 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 6275145 Oct 12, 2018 (152)
113 Genetic variation in the Estonian population NC_000010.10 - 6275145 Oct 12, 2018 (152)
114 The Danish reference pan genome NC_000010.10 - 6275145 Apr 26, 2020 (154)
115 gnomAD - Genomes NC_000010.11 - 6233182 Apr 26, 2021 (155)
116 Genome of the Netherlands Release 5 NC_000010.10 - 6275145 Apr 26, 2020 (154)
117 HGDP-CEPH-db Supplement 1 NC_000010.9 - 6315151 Apr 26, 2020 (154)
118 HapMap NC_000010.11 - 6233182 Apr 26, 2020 (154)
119 KOREAN population from KRGDB NC_000010.10 - 6275145 Apr 26, 2020 (154)
120 Korean Genome Project NC_000010.11 - 6233182 Apr 26, 2020 (154)
121 Northern Sweden NC_000010.10 - 6275145 Jul 13, 2019 (153)
122 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000010.10 - 6275145 Apr 26, 2021 (155)
123 Qatari NC_000010.10 - 6275145 Apr 26, 2020 (154)
124 SGDP_PRJ NC_000010.10 - 6275145 Apr 26, 2020 (154)
125 Siberian NC_000010.10 - 6275145 Apr 26, 2020 (154)
126 8.3KJPN NC_000010.10 - 6275145 Apr 26, 2021 (155)
127 14KJPN NC_000010.11 - 6233182 Oct 16, 2022 (156)
128 TopMed NC_000010.11 - 6233182 Apr 26, 2021 (155)
129 UK 10K study - Twins NC_000010.10 - 6275145 Oct 12, 2018 (152)
130 A Vietnamese Genetic Variation Database NC_000010.10 - 6275145 Jul 13, 2019 (153)
131 ALFA NC_000010.11 - 6233182 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)
rs3750666 Oct 09, 2002 (108)
rs57373212 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
28565548, ss3921388154 NC_000010.10:6275144:T:A NC_000010.11:6233181:T:A (self)
ss84151404, ss3638931178, ss3639464905 NC_000010.8:6315150:T:C NC_000010.11:6233181:T:C (self)
51945, ss88080766, ss109197101, ss115305052, ss119003589, ss168978065, ss170368390, ss201096992, ss207434872, ss290900076, ss482626023, ss825410375, ss1596804898, ss1713154059, ss3642836710, ss3847374053 NC_000010.9:6315150:T:C NC_000010.11:6233181:T:C (self)
48470208, 26931413, 19140439, 2014306, 12011866, 28565548, 10311448, 681202, 12519793, 25469844, 6720431, 54064673, 26931413, 5978419, ss224544376, ss235037941, ss241773748, ss483306566, ss535521881, ss561745207, ss656251406, ss780227966, ss782096362, ss832794404, ss835713149, ss987156971, ss1076731432, ss1336128938, ss1426208726, ss1574889101, ss1623911081, ss1666905114, ss1806238121, ss1930477863, ss2025962050, ss2154204077, ss2627449888, ss2632669739, ss2698427944, ss2710701775, ss2885101988, ss3005875109, ss3348941782, ss3626378069, ss3630697650, ss3637831809, ss3641659067, ss3646402458, ss3673402191, ss3737026583, ss3747699249, ss3786570073, ss3791763986, ss3796645763, ss3831946855, ss3839504239, ss3873452864, ss3921388154, ss3983972399, ss3985455275, ss3986049059, ss4017468449, ss5196095366, ss5315447963, ss5391359096, ss5648601315, ss5823922810, ss5939882497, ss5980592454 NC_000010.10:6275144:T:C NC_000010.11:6233181:T:C (self)
63640852, 342407799, 329978, 23508674, 74731303, 56779558, 10592446196, ss2172356085, ss3026764542, ss3649280380, ss3689205866, ss3813062260, ss3844970220, ss3967130673, ss4841233903, ss5282788134, ss5478579362, ss5576114917, ss5740894199, ss5811162359, ss5849420595, ss5877588517 NC_000010.11:6233181:T:C NC_000010.11:6233181:T:C (self)
ss2380855, ss4936693, ss6213905, ss38594368, ss46564215, ss66770869, ss67128298, ss67467621, ss70441391, ss70630084, ss71180005, ss71642805, ss75798869, ss83823764, ss97618000, ss121741916, ss131661601, ss153501072, ss159282268, ss170623962, ss172567067 NT_008705.16:6215144:T:C NC_000010.11:6233181:T:C (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 rs1539232

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