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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.

rs5744760

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:132676107 (GRCh38.p14) Help

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

Alleles
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.007703 (2039/264690, TOPMED)
C=0.002085 (515/247034, GnomAD_exome)
C=0.001022 (203/198692, ALFA) (+ 15 more)
C=0.008048 (1129/140284, GnomAD)
C=0.002692 (326/121118, ExAC)
C=0.01185 (933/78702, PAGE_STUDY)
C=0.00011 (3/28258, 14KJPN)
C=0.00006 (1/16760, 8.3KJPN)
C=0.01161 (151/13006, GO-ESP)
C=0.0097 (62/6404, 1000G_30x)
C=0.0092 (46/5008, 1000G)
C=0.0003 (1/2922, KOREAN)
C=0.018 (16/898, HapMap)
C=0.001 (1/792, PRJEB37584)
C=0.002 (1/626, Chileans)
C=0.009 (2/216, Qatari)
T=0.5 (2/4, SGDP_PRJ)
C=0.5 (2/4, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
POLE : Missense Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 214744 T=0.998505 C=0.001495
European Sub 181150 T=0.999845 C=0.000155
African Sub 11570 T=0.97718 C=0.02282
African Others Sub 396 T=0.962 C=0.038
African American Sub 11174 T=0.97772 C=0.02228
Asian Sub 3446 T=1.0000 C=0.0000
East Asian Sub 2730 T=1.0000 C=0.0000
Other Asian Sub 716 T=1.000 C=0.000
Latin American 1 Sub 868 T=0.990 C=0.010
Latin American 2 Sub 1118 T=1.0000 C=0.0000
South Asian Sub 292 T=1.000 C=0.000
Other Sub 16300 T=0.99877 C=0.00123


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=0.992297 C=0.007703
gnomAD - Exomes Global Study-wide 247034 T=0.997915 C=0.002085
gnomAD - Exomes European Sub 133828 T=0.999813 C=0.000187
gnomAD - Exomes Asian Sub 47830 T=0.99985 C=0.00015
gnomAD - Exomes American Sub 33242 T=0.99877 C=0.00123
gnomAD - Exomes African Sub 16164 T=0.97321 C=0.02679
gnomAD - Exomes Ashkenazi Jewish Sub 9926 T=1.0000 C=0.0000
gnomAD - Exomes Other Sub 6044 T=0.9985 C=0.0015
Allele Frequency Aggregator Total Global 198692 T=0.998978 C=0.001022
Allele Frequency Aggregator European Sub 171314 T=0.999848 C=0.000152
Allele Frequency Aggregator Other Sub 14890 T=0.99893 C=0.00107
Allele Frequency Aggregator African Sub 6764 T=0.9775 C=0.0225
Allele Frequency Aggregator Asian Sub 3446 T=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 1118 T=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 1 Sub 868 T=0.990 C=0.010
Allele Frequency Aggregator South Asian Sub 292 T=1.000 C=0.000
gnomAD - Genomes Global Study-wide 140284 T=0.991952 C=0.008048
gnomAD - Genomes European Sub 75956 T=0.99988 C=0.00012
gnomAD - Genomes African Sub 42052 T=0.97444 C=0.02556
gnomAD - Genomes American Sub 13666 T=0.99788 C=0.00212
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3132 T=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2154 T=0.9926 C=0.0074
ExAC Global Study-wide 121118 T=0.997308 C=0.002692
ExAC Europe Sub 73172 T=0.99980 C=0.00020
ExAC Asian Sub 25110 T=0.99988 C=0.00012
ExAC American Sub 11560 T=0.99888 C=0.00112
ExAC African Sub 10372 T=0.97165 C=0.02835
ExAC Other Sub 904 T=0.999 C=0.001
The PAGE Study Global Study-wide 78702 T=0.98815 C=0.01185
The PAGE Study AfricanAmerican Sub 32516 T=0.97632 C=0.02368
The PAGE Study Mexican Sub 10810 T=0.99917 C=0.00083
The PAGE Study Asian Sub 8318 T=1.0000 C=0.0000
The PAGE Study PuertoRican Sub 7918 T=0.9908 C=0.0092
The PAGE Study NativeHawaiian Sub 4534 T=0.9996 C=0.0004
The PAGE Study Cuban Sub 4230 T=0.9967 C=0.0033
The PAGE Study Dominican Sub 3828 T=0.9898 C=0.0102
The PAGE Study CentralAmerican Sub 2450 T=0.9947 C=0.0053
The PAGE Study SouthAmerican Sub 1982 T=0.9970 C=0.0030
The PAGE Study NativeAmerican Sub 1260 T=0.9944 C=0.0056
The PAGE Study SouthAsian Sub 856 T=1.000 C=0.000
14KJPN JAPANESE Study-wide 28258 T=0.99989 C=0.00011
8.3KJPN JAPANESE Study-wide 16760 T=0.99994 C=0.00006
GO Exome Sequencing Project Global Study-wide 13006 T=0.98839 C=0.01161
GO Exome Sequencing Project European American Sub 8600 T=1.0000 C=0.0000
GO Exome Sequencing Project African American Sub 4406 T=0.9657 C=0.0343
1000Genomes_30x Global Study-wide 6404 T=0.9903 C=0.0097
1000Genomes_30x African Sub 1786 T=0.9664 C=0.0336
1000Genomes_30x Europe Sub 1266 T=1.0000 C=0.0000
1000Genomes_30x South Asian Sub 1202 T=1.0000 C=0.0000
1000Genomes_30x East Asian Sub 1170 T=1.0000 C=0.0000
1000Genomes_30x American Sub 980 T=0.998 C=0.002
1000Genomes Global Study-wide 5008 T=0.9908 C=0.0092
1000Genomes African Sub 1322 T=0.9660 C=0.0340
1000Genomes East Asian Sub 1008 T=1.0000 C=0.0000
1000Genomes Europe Sub 1006 T=1.0000 C=0.0000
1000Genomes South Asian Sub 978 T=1.000 C=0.000
1000Genomes American Sub 694 T=0.999 C=0.001
KOREAN population from KRGDB KOREAN Study-wide 2922 T=0.9997 C=0.0003
HapMap Global Study-wide 898 T=0.982 C=0.018
HapMap African Sub 692 T=0.977 C=0.023
HapMap American Sub 118 T=1.000 C=0.000
HapMap Asian Sub 88 T=1.00 C=0.00
CNV burdens in cranial meningiomas Global Study-wide 792 T=0.999 C=0.001
CNV burdens in cranial meningiomas CRM Sub 792 T=0.999 C=0.001
Chileans Chilean Study-wide 626 T=0.998 C=0.002
Qatari Global Study-wide 216 T=0.991 C=0.009
SGDP_PRJ Global Study-wide 4 T=0.5 C=0.5
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 12 NC_000012.12:g.132676107T>C
GRCh37.p13 chr 12 NC_000012.11:g.133252693T>C
POLE RefSeqGene (LRG_789) NG_033840.1:g.16418A>G
Gene: POLE, DNA polymerase epsilon, catalytic subunit (minus strand)
Molecule type Change Amino acid[Codon] SO Term
POLE transcript NM_006231.4:c.1007A>G N [AAT] > S [AGT] Coding Sequence Variant
DNA polymerase epsilon catalytic subunit A NP_006222.2:p.Asn336Ser N (Asn) > S (Ser) Missense Variant
POLE transcript variant X6 XM_011534802.4:c. N/A Genic Upstream Transcript Variant
POLE transcript variant X1 XM_011534795.4:c.1007A>G N [AAT] > S [AGT] Coding Sequence Variant
DNA polymerase epsilon catalytic subunit A isoform X1 XP_011533097.1:p.Asn336Ser N (Asn) > S (Ser) Missense Variant
POLE transcript variant X2 XM_011534797.4:c.86A>G N [AAT] > S [AGT] Coding Sequence Variant
DNA polymerase epsilon catalytic subunit A isoform X2 XP_011533099.1:p.Asn29Ser N (Asn) > S (Ser) Missense Variant
POLE transcript variant X3 XM_011534799.3:c.1007A>G N [AAT] > S [AGT] Coding Sequence Variant
DNA polymerase epsilon catalytic subunit A isoform X3 XP_011533101.1:p.Asn336Ser N (Asn) > S (Ser) Missense Variant
POLE transcript variant X4 XM_047429018.1:c.1007A>G N [AAT] > S [AGT] Coding Sequence Variant
DNA polymerase epsilon catalytic subunit A isoform X4 XP_047284974.1:p.Asn336Ser N (Asn) > S (Ser) Missense Variant
POLE transcript variant X5 XR_941395.3:n.1034A>G N/A Non Coding 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.

Allele: C (allele ID: 241486 )
ClinVar Accession Disease Names Clinical Significance
RCV000230914.11 Colorectal cancer, susceptibility to, 12 Benign
RCV000427188.11 not specified Benign
RCV000573616.1 Hereditary cancer-predisposing syndrome Benign
RCV000759255.6 not provided Benign
RCV001354963.1 Polymerase proofreading-related adenomatous polyposis Likely-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 T= C
GRCh38.p14 chr 12 NC_000012.12:g.132676107= NC_000012.12:g.132676107T>C
GRCh37.p13 chr 12 NC_000012.11:g.133252693= NC_000012.11:g.133252693T>C
POLE RefSeqGene (LRG_789) NG_033840.1:g.16418= NG_033840.1:g.16418A>G
POLE transcript NM_006231.4:c.1007= NM_006231.4:c.1007A>G
POLE transcript NM_006231.3:c.1007= NM_006231.3:c.1007A>G
POLE transcript NM_006231.2:c.1007= NM_006231.2:c.1007A>G
POLE transcript variant X1 XM_011534795.4:c.1007= XM_011534795.4:c.1007A>G
POLE transcript variant X1 XM_011534795.3:c.1007= XM_011534795.3:c.1007A>G
POLE transcript variant X1 XM_011534795.2:c.1007= XM_011534795.2:c.1007A>G
POLE transcript variant X1 XM_011534795.1:c.1007= XM_011534795.1:c.1007A>G
POLE transcript variant X2 XM_011534797.4:c.86= XM_011534797.4:c.86A>G
POLE transcript variant X2 XM_011534797.3:c.86= XM_011534797.3:c.86A>G
POLE transcript variant X2 XM_011534797.2:c.86= XM_011534797.2:c.86A>G
POLE transcript variant X3 XM_011534797.1:c.86= XM_011534797.1:c.86A>G
POLE transcript variant X3 XM_011534799.3:c.1007= XM_011534799.3:c.1007A>G
POLE transcript variant X4 XM_011534799.2:c.1007= XM_011534799.2:c.1007A>G
POLE transcript variant X5 XM_011534799.1:c.1007= XM_011534799.1:c.1007A>G
POLE transcript variant X5 XR_941395.3:n.1034= XR_941395.3:n.1034A>G
POLE transcript variant X6 XR_941395.2:n.1211= XR_941395.2:n.1211A>G
POLE transcript variant X8 XR_941395.1:n.1216= XR_941395.1:n.1216A>G
POLE transcript variant X4 XM_047429018.1:c.1007= XM_047429018.1:c.1007A>G
DNA polymerase epsilon catalytic subunit A NP_006222.2:p.Asn336= NP_006222.2:p.Asn336Ser
DNA polymerase epsilon catalytic subunit A isoform X1 XP_011533097.1:p.Asn336= XP_011533097.1:p.Asn336Ser
DNA polymerase epsilon catalytic subunit A isoform X2 XP_011533099.1:p.Asn29= XP_011533099.1:p.Asn29Ser
DNA polymerase epsilon catalytic subunit A isoform X3 XP_011533101.1:p.Asn336= XP_011533101.1:p.Asn336Ser
DNA polymerase epsilon catalytic subunit A isoform X4 XP_047284974.1:p.Asn336= XP_047284974.1:p.Asn336Ser
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#.

68 SubSNP, 17 Frequency, 5 ClinVar submissions
No Submitter Submission ID Date (Build)
1 EGP_SNPS ss7989050 Apr 21, 2003 (114)
2 PERLEGEN ss23501586 Sep 20, 2004 (123)
3 PERLEGEN ss69126376 May 18, 2007 (127)
4 AFFY ss74808632 Aug 16, 2007 (128)
5 ILLUMINA ss74905825 Dec 06, 2007 (129)
6 AFFY ss76761924 Dec 06, 2007 (129)
7 KRIBB_YJKIM ss119498072 Dec 01, 2009 (131)
8 ILLUMINA ss173926212 Jul 04, 2010 (132)
9 1000GENOMES ss217425737 Jul 14, 2010 (132)
10 1000GENOMES ss217428498 Jul 14, 2010 (132)
11 1000GENOMES ss337725338 May 09, 2011 (134)
12 NHLBI-ESP ss342372009 May 09, 2011 (134)
13 1000GENOMES ss491055969 May 04, 2012 (137)
14 EXOME_CHIP ss491476407 May 04, 2012 (137)
15 ILLUMINA ss534381367 Sep 08, 2015 (146)
16 ILLUMINA ss780694745 Sep 08, 2015 (146)
17 ILLUMINA ss783368689 Sep 08, 2015 (146)
18 JMKIDD_LAB ss974486040 Aug 21, 2014 (142)
19 1000GENOMES ss1347293361 Aug 21, 2014 (142)
20 EVA_EXAC ss1691207690 Apr 01, 2015 (144)
21 EVA_SVP ss1713371564 Apr 01, 2015 (144)
22 ILLUMINA ss1752056557 Sep 08, 2015 (146)
23 ILLUMINA ss1917881176 Feb 12, 2016 (147)
24 WEILL_CORNELL_DGM ss1933497550 Feb 12, 2016 (147)
25 ILLUMINA ss1946354929 Feb 12, 2016 (147)
26 ILLUMINA ss1959482052 Feb 12, 2016 (147)
27 HUMAN_LONGEVITY ss2194518048 Dec 20, 2016 (150)
28 GNOMAD ss2740286555 Nov 08, 2017 (151)
29 GNOMAD ss2749008938 Nov 08, 2017 (151)
30 GNOMAD ss2917014415 Nov 08, 2017 (151)
31 AFFY ss2984997149 Nov 08, 2017 (151)
32 ILLUMINA ss3021485259 Nov 08, 2017 (151)
33 ILLUMINA ss3627010367 Oct 12, 2018 (152)
34 ILLUMINA ss3627010368 Oct 12, 2018 (152)
35 ILLUMINA ss3634532994 Oct 12, 2018 (152)
36 ILLUMINA ss3637997276 Oct 12, 2018 (152)
37 ILLUMINA ss3640240327 Oct 12, 2018 (152)
38 ILLUMINA ss3642988174 Oct 12, 2018 (152)
39 ILLUMINA ss3644607942 Oct 12, 2018 (152)
40 ILLUMINA ss3651869929 Oct 12, 2018 (152)
41 ILLUMINA ss3653767430 Oct 12, 2018 (152)
42 EVA_DECODE ss3694807338 Jul 13, 2019 (153)
43 ILLUMINA ss3725373831 Jul 13, 2019 (153)
44 ILLUMINA ss3744403559 Jul 13, 2019 (153)
45 ILLUMINA ss3744833761 Jul 13, 2019 (153)
46 EVA ss3751172865 Jul 13, 2019 (153)
47 PAGE_CC ss3771730723 Jul 13, 2019 (153)
48 ILLUMINA ss3772332902 Jul 13, 2019 (153)
49 KHV_HUMAN_GENOMES ss3816498708 Jul 13, 2019 (153)
50 EVA ss3824792402 Apr 27, 2020 (154)
51 SGDP_PRJ ss3879474887 Apr 27, 2020 (154)
52 KRGDB ss3928272968 Apr 27, 2020 (154)
53 EVA ss3984676244 Apr 26, 2021 (155)
54 EVA ss3986594758 Apr 26, 2021 (155)
55 EVA ss4017620081 Apr 26, 2021 (155)
56 TOPMED ss4938185346 Apr 26, 2021 (155)
57 TOMMO_GENOMICS ss5208936894 Apr 26, 2021 (155)
58 1000G_HIGH_COVERAGE ss5292822886 Oct 16, 2022 (156)
59 EVA ss5409290690 Oct 16, 2022 (156)
60 HUGCELL_USP ss5487361110 Oct 16, 2022 (156)
61 1000G_HIGH_COVERAGE ss5591311595 Oct 16, 2022 (156)
62 SANFORD_IMAGENETICS ss5624317691 Oct 16, 2022 (156)
63 SANFORD_IMAGENETICS ss5654289654 Oct 16, 2022 (156)
64 TOMMO_GENOMICS ss5759504911 Oct 16, 2022 (156)
65 EVA ss5847690244 Oct 16, 2022 (156)
66 EVA ss5906685246 Oct 16, 2022 (156)
67 EVA ss5945702773 Oct 16, 2022 (156)
68 EVA ss5979410401 Oct 16, 2022 (156)
69 1000Genomes NC_000012.11 - 133252693 Oct 12, 2018 (152)
70 1000Genomes_30x NC_000012.12 - 132676107 Oct 16, 2022 (156)
71 Chileans NC_000012.11 - 133252693 Apr 27, 2020 (154)
72 ExAC NC_000012.11 - 133252693 Oct 12, 2018 (152)
73 gnomAD - Genomes NC_000012.12 - 132676107 Apr 26, 2021 (155)
74 gnomAD - Exomes NC_000012.11 - 133252693 Jul 13, 2019 (153)
75 GO Exome Sequencing Project NC_000012.11 - 133252693 Oct 12, 2018 (152)
76 HapMap NC_000012.12 - 132676107 Apr 27, 2020 (154)
77 KOREAN population from KRGDB NC_000012.11 - 133252693 Apr 27, 2020 (154)
78 The PAGE Study NC_000012.12 - 132676107 Jul 13, 2019 (153)
79 CNV burdens in cranial meningiomas NC_000012.11 - 133252693 Apr 26, 2021 (155)
80 Qatari NC_000012.11 - 133252693 Apr 27, 2020 (154)
81 SGDP_PRJ NC_000012.11 - 133252693 Apr 27, 2020 (154)
82 8.3KJPN NC_000012.11 - 133252693 Apr 26, 2021 (155)
83 14KJPN NC_000012.12 - 132676107 Oct 16, 2022 (156)
84 TopMed NC_000012.12 - 132676107 Apr 26, 2021 (155)
85 ALFA NC_000012.12 - 132676107 Apr 26, 2021 (155)
86 ClinVar RCV000230914.11 Oct 16, 2022 (156)
87 ClinVar RCV000427188.11 Oct 16, 2022 (156)
88 ClinVar RCV000573616.1 Oct 12, 2018 (152)
89 ClinVar RCV000759255.6 Oct 16, 2022 (156)
90 ClinVar RCV001354963.1 Oct 16, 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)
rs17067109 Oct 08, 2004 (123)
rs52836824 Sep 21, 2007 (128)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss217425737, ss217428498, ss1713371564, ss3642988174 NC_000012.10:131762765:T:C NC_000012.12:132676106:T:C (self)
60128509, 113930, 1529538, 9527657, 1249802, 35450362, 225741, 15539480, 31491867, 66906201, ss337725338, ss342372009, ss491055969, ss491476407, ss534381367, ss780694745, ss783368689, ss974486040, ss1347293361, ss1691207690, ss1752056557, ss1917881176, ss1933497550, ss1946354929, ss1959482052, ss2740286555, ss2749008938, ss2917014415, ss2984997149, ss3021485259, ss3627010367, ss3627010368, ss3634532994, ss3637997276, ss3640240327, ss3644607942, ss3651869929, ss3653767430, ss3744403559, ss3744833761, ss3751172865, ss3772332902, ss3824792402, ss3879474887, ss3928272968, ss3984676244, ss3986594758, ss4017620081, ss5208936894, ss5409290690, ss5624317691, ss5654289654, ss5847690244, ss5945702773, ss5979410401 NC_000012.11:133252692:T:C NC_000012.12:132676106:T:C (self)
RCV000230914.11, RCV000427188.11, RCV000573616.1, RCV000759255.6, RCV001354963.1, 78837530, 423985785, 937660, 952192, 93342015, 153731003, 9995613597, ss2194518048, ss3694807338, ss3725373831, ss3771730723, ss3816498708, ss4938185346, ss5292822886, ss5487361110, ss5591311595, ss5759504911, ss5906685246 NC_000012.12:132676106:T:C NC_000012.12:132676106:T:C (self)
ss7989050, ss23501586, ss69126376, ss74808632, ss74905825, ss76761924, ss119498072, ss173926212 NT_024477.14:445700:T:C NC_000012.12:132676106: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 rs5744760

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.post774+babeb33