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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.

rs9581943

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr13:27919860 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.293302 (77634/264690, TOPMED)
A=0.387600 (58133/149982, ALFA)
A=0.305651 (42829/140124, GnomAD) (+ 17 more)
A=0.36045 (10185/28256, 14KJPN)
A=0.35913 (6019/16760, 8.3KJPN)
A=0.3136 (2008/6404, 1000G_30x)
A=0.3281 (1643/5008, 1000G)
A=0.3933 (1762/4480, Estonian)
A=0.4071 (1569/3854, ALSPAC)
A=0.4021 (1491/3708, TWINSUK)
A=0.3515 (1030/2930, KOREAN)
A=0.2889 (546/1890, HapMap)
A=0.3557 (651/1830, Korea1K)
A=0.368 (291/790, PRJEB37584)
A=0.392 (235/600, NorthernSweden)
G=0.359 (117/326, SGDP_PRJ)
A=0.319 (69/216, Qatari)
A=0.336 (72/214, Vietnamese)
A=0.47 (19/40, GENOME_DK)
G=0.29 (11/38, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
PDX1 : 2KB Upstream Variant
Publications
5 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 149982 G=0.612400 A=0.387600
European Sub 129200 G=0.588994 A=0.411006
African Sub 6674 G=0.8776 A=0.1224
African Others Sub 242 G=0.938 A=0.062
African American Sub 6432 G=0.8753 A=0.1247
Asian Sub 630 G=0.690 A=0.310
East Asian Sub 498 G=0.685 A=0.315
Other Asian Sub 132 G=0.712 A=0.288
Latin American 1 Sub 752 G=0.693 A=0.307
Latin American 2 Sub 6328 G=0.7593 A=0.2407
South Asian Sub 184 G=0.516 A=0.484
Other Sub 6214 G=0.6498 A=0.3502


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 G=0.706698 A=0.293302
Allele Frequency Aggregator Total Global 149982 G=0.612400 A=0.387600
Allele Frequency Aggregator European Sub 129200 G=0.588994 A=0.411006
Allele Frequency Aggregator African Sub 6674 G=0.8776 A=0.1224
Allele Frequency Aggregator Latin American 2 Sub 6328 G=0.7593 A=0.2407
Allele Frequency Aggregator Other Sub 6214 G=0.6498 A=0.3502
Allele Frequency Aggregator Latin American 1 Sub 752 G=0.693 A=0.307
Allele Frequency Aggregator Asian Sub 630 G=0.690 A=0.310
Allele Frequency Aggregator South Asian Sub 184 G=0.516 A=0.484
gnomAD - Genomes Global Study-wide 140124 G=0.694349 A=0.305651
gnomAD - Genomes European Sub 75860 G=0.59350 A=0.40650
gnomAD - Genomes African Sub 42010 G=0.87560 A=0.12440
gnomAD - Genomes American Sub 13656 G=0.71902 A=0.28098
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=0.6630 A=0.3370
gnomAD - Genomes East Asian Sub 3128 G=0.6362 A=0.3638
gnomAD - Genomes Other Sub 2150 G=0.6874 A=0.3126
14KJPN JAPANESE Study-wide 28256 G=0.63955 A=0.36045
8.3KJPN JAPANESE Study-wide 16760 G=0.64087 A=0.35913
1000Genomes_30x Global Study-wide 6404 G=0.6864 A=0.3136
1000Genomes_30x African Sub 1786 G=0.9317 A=0.0683
1000Genomes_30x Europe Sub 1266 G=0.5727 A=0.4273
1000Genomes_30x South Asian Sub 1202 G=0.4684 A=0.5316
1000Genomes_30x East Asian Sub 1170 G=0.6128 A=0.3872
1000Genomes_30x American Sub 980 G=0.742 A=0.258
1000Genomes Global Study-wide 5008 G=0.6719 A=0.3281
1000Genomes African Sub 1322 G=0.9221 A=0.0779
1000Genomes East Asian Sub 1008 G=0.6141 A=0.3859
1000Genomes Europe Sub 1006 G=0.5696 A=0.4304
1000Genomes South Asian Sub 978 G=0.455 A=0.545
1000Genomes American Sub 694 G=0.733 A=0.267
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.6067 A=0.3933
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.5929 A=0.4071
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.5979 A=0.4021
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.6485 A=0.3515
HapMap Global Study-wide 1890 G=0.7111 A=0.2889
HapMap American Sub 768 G=0.605 A=0.395
HapMap African Sub 692 G=0.892 A=0.108
HapMap Asian Sub 254 G=0.622 A=0.378
HapMap Europe Sub 176 G=0.591 A=0.409
Korean Genome Project KOREAN Study-wide 1830 G=0.6443 A=0.3557
CNV burdens in cranial meningiomas Global Study-wide 790 G=0.632 A=0.368
CNV burdens in cranial meningiomas CRM Sub 790 G=0.632 A=0.368
Northern Sweden ACPOP Study-wide 600 G=0.608 A=0.392
SGDP_PRJ Global Study-wide 326 G=0.359 A=0.641
Qatari Global Study-wide 216 G=0.681 A=0.319
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.664 A=0.336
The Danish reference pan genome Danish Study-wide 40 G=0.53 A=0.47
Siberian Global Study-wide 38 G=0.29 A=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 13 NC_000013.11:g.27919860G>A
GRCh37.p13 chr 13 NC_000013.10:g.28493997G>A
PDX1 RefSeqGene NG_008183.1:g.4830G>A
Gene: PDX1, pancreatic and duodenal homeobox 1 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
PDX1 transcript NM_000209.4:c. N/A Upstream 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: A (allele ID: 666284 )
ClinVar Accession Disease Names Clinical Significance
RCV000828829.3 not provided 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 G= A
GRCh38.p14 chr 13 NC_000013.11:g.27919860= NC_000013.11:g.27919860G>A
GRCh37.p13 chr 13 NC_000013.10:g.28493997= NC_000013.10:g.28493997G>A
PDX1 RefSeqGene NG_008183.1:g.4830= NG_008183.1:g.4830G>A
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#.

98 SubSNP, 20 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss13308531 Dec 05, 2003 (119)
2 ILLUMINA ss75003161 Dec 07, 2007 (129)
3 BGI ss103106119 Dec 01, 2009 (131)
4 1000GENOMES ss112643282 Jan 25, 2009 (130)
5 KRIBB_YJKIM ss119596749 Dec 01, 2009 (131)
6 ILLUMINA ss161001151 Dec 01, 2009 (131)
7 COMPLETE_GENOMICS ss167779704 Jul 04, 2010 (132)
8 ILLUMINA ss174871965 Jul 04, 2010 (132)
9 1000GENOMES ss226096435 Jul 14, 2010 (132)
10 1000GENOMES ss236188543 Jul 15, 2010 (132)
11 1000GENOMES ss242696607 Jul 15, 2010 (132)
12 BL ss254881177 May 09, 2011 (134)
13 GMI ss281651146 May 04, 2012 (137)
14 GMI ss286674289 Apr 25, 2013 (138)
15 ILLUMINA ss481942299 May 04, 2012 (137)
16 ILLUMINA ss481975724 May 04, 2012 (137)
17 ILLUMINA ss482931669 Sep 08, 2015 (146)
18 ILLUMINA ss485764861 May 04, 2012 (137)
19 ILLUMINA ss537614369 Sep 08, 2015 (146)
20 TISHKOFF ss563568379 Apr 25, 2013 (138)
21 SSMP ss659163997 Apr 25, 2013 (138)
22 ILLUMINA ss778717052 Sep 08, 2015 (146)
23 ILLUMINA ss783328242 Sep 08, 2015 (146)
24 ILLUMINA ss784280003 Sep 08, 2015 (146)
25 ILLUMINA ss832589973 Sep 08, 2015 (146)
26 ILLUMINA ss834176363 Sep 08, 2015 (146)
27 EVA-GONL ss990223205 Aug 21, 2014 (142)
28 JMKIDD_LAB ss1078959622 Aug 21, 2014 (142)
29 1000GENOMES ss1347599809 Aug 21, 2014 (142)
30 DDI ss1427138745 Apr 01, 2015 (144)
31 EVA_GENOME_DK ss1576691588 Apr 01, 2015 (144)
32 EVA_UK10K_ALSPAC ss1629946656 Apr 01, 2015 (144)
33 EVA_DECODE ss1642327943 Apr 01, 2015 (144)
34 EVA_UK10K_TWINSUK ss1672940689 Apr 01, 2015 (144)
35 EVA_SVP ss1713378030 Apr 01, 2015 (144)
36 ILLUMINA ss1752099160 Sep 08, 2015 (146)
37 HAMMER_LAB ss1807539231 Sep 08, 2015 (146)
38 WEILL_CORNELL_DGM ss1933591789 Feb 12, 2016 (147)
39 GENOMED ss1967742239 Jul 19, 2016 (147)
40 JJLAB ss2027551595 Sep 14, 2016 (149)
41 USC_VALOUEV ss2155916038 Dec 20, 2016 (150)
42 HUMAN_LONGEVITY ss2195060857 Dec 20, 2016 (150)
43 SYSTEMSBIOZJU ss2628263886 Nov 08, 2017 (151)
44 ILLUMINA ss2633043137 Nov 08, 2017 (151)
45 ILLUMINA ss2635043588 Nov 08, 2017 (151)
46 GRF ss2700288087 Nov 08, 2017 (151)
47 GNOMAD ss2917887120 Nov 08, 2017 (151)
48 SWEGEN ss3010766231 Nov 08, 2017 (151)
49 BIOINF_KMB_FNS_UNIBA ss3027591183 Nov 08, 2017 (151)
50 CSHL ss3350379449 Nov 08, 2017 (151)
51 ILLUMINA ss3627028450 Oct 12, 2018 (152)
52 ILLUMINA ss3631047451 Oct 12, 2018 (152)
53 ILLUMINA ss3633043956 Oct 12, 2018 (152)
54 ILLUMINA ss3633746066 Oct 12, 2018 (152)
55 ILLUMINA ss3634537120 Oct 12, 2018 (152)
56 ILLUMINA ss3635436292 Oct 12, 2018 (152)
57 ILLUMINA ss3636223683 Oct 12, 2018 (152)
58 ILLUMINA ss3637187346 Oct 12, 2018 (152)
59 ILLUMINA ss3638001877 Oct 12, 2018 (152)
60 ILLUMINA ss3640244451 Oct 12, 2018 (152)
61 ILLUMINA ss3642992450 Oct 12, 2018 (152)
62 EGCUT_WGS ss3678026960 Jul 13, 2019 (153)
63 EVA_DECODE ss3694981417 Jul 13, 2019 (153)
64 ACPOP ss3739607836 Jul 13, 2019 (153)
65 ILLUMINA ss3744837855 Jul 13, 2019 (153)
66 EVA ss3751269747 Jul 13, 2019 (153)
67 ILLUMINA ss3772336970 Jul 13, 2019 (153)
68 KHV_HUMAN_GENOMES ss3816600471 Jul 13, 2019 (153)
69 EVA ss3833464071 Apr 27, 2020 (154)
70 EVA ss3840309179 Apr 27, 2020 (154)
71 EVA ss3845793863 Apr 27, 2020 (154)
72 SGDP_PRJ ss3879649850 Apr 27, 2020 (154)
73 KRGDB ss3928470219 Apr 27, 2020 (154)
74 KOGIC ss3973257939 Apr 27, 2020 (154)
75 EVA ss3984677659 Apr 26, 2021 (155)
76 EVA ss4017624185 Apr 26, 2021 (155)
77 TOPMED ss4940824512 Apr 26, 2021 (155)
78 TOMMO_GENOMICS ss5209293797 Apr 26, 2021 (155)
79 EVA ss5237523645 Apr 26, 2021 (155)
80 1000G_HIGH_COVERAGE ss5293190313 Oct 16, 2022 (156)
81 EVA ss5315671123 Oct 16, 2022 (156)
82 EVA ss5409773602 Oct 16, 2022 (156)
83 HUGCELL_USP ss5487607827 Oct 16, 2022 (156)
84 EVA ss5510917375 Oct 16, 2022 (156)
85 1000G_HIGH_COVERAGE ss5591867163 Oct 16, 2022 (156)
86 SANFORD_IMAGENETICS ss5624320052 Oct 16, 2022 (156)
87 SANFORD_IMAGENETICS ss5654456186 Oct 16, 2022 (156)
88 TOMMO_GENOMICS ss5760968426 Oct 16, 2022 (156)
89 EVA ss5799892317 Oct 16, 2022 (156)
90 YY_MCH ss5813974470 Oct 16, 2022 (156)
91 EVA ss5839259951 Oct 16, 2022 (156)
92 EVA ss5847421432 Oct 16, 2022 (156)
93 EVA ss5847693189 Oct 16, 2022 (156)
94 EVA ss5850659804 Oct 16, 2022 (156)
95 EVA ss5924476886 Oct 16, 2022 (156)
96 EVA ss5945862420 Oct 16, 2022 (156)
97 EVA ss5979413194 Oct 16, 2022 (156)
98 EVA ss5980781925 Oct 16, 2022 (156)
99 1000Genomes NC_000013.10 - 28493997 Oct 12, 2018 (152)
100 1000Genomes_30x NC_000013.11 - 27919860 Oct 16, 2022 (156)
101 The Avon Longitudinal Study of Parents and Children NC_000013.10 - 28493997 Oct 12, 2018 (152)
102 Genetic variation in the Estonian population NC_000013.10 - 28493997 Oct 12, 2018 (152)
103 The Danish reference pan genome NC_000013.10 - 28493997 Apr 27, 2020 (154)
104 gnomAD - Genomes NC_000013.11 - 27919860 Apr 26, 2021 (155)
105 HapMap NC_000013.11 - 27919860 Apr 27, 2020 (154)
106 KOREAN population from KRGDB NC_000013.10 - 28493997 Apr 27, 2020 (154)
107 Korean Genome Project NC_000013.11 - 27919860 Apr 27, 2020 (154)
108 Northern Sweden NC_000013.10 - 28493997 Jul 13, 2019 (153)
109 CNV burdens in cranial meningiomas NC_000013.10 - 28493997 Apr 26, 2021 (155)
110 Qatari NC_000013.10 - 28493997 Apr 27, 2020 (154)
111 SGDP_PRJ NC_000013.10 - 28493997 Apr 27, 2020 (154)
112 Siberian NC_000013.10 - 28493997 Apr 27, 2020 (154)
113 8.3KJPN NC_000013.10 - 28493997 Apr 26, 2021 (155)
114 14KJPN NC_000013.11 - 27919860 Oct 16, 2022 (156)
115 TopMed NC_000013.11 - 27919860 Apr 26, 2021 (155)
116 UK 10K study - Twins NC_000013.10 - 28493997 Oct 12, 2018 (152)
117 A Vietnamese Genetic Variation Database NC_000013.10 - 28493997 Jul 13, 2019 (153)
118 ALFA NC_000013.11 - 27919860 Apr 26, 2021 (155)
119 ClinVar RCV000828829.3 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss112643282, ss167779704, ss254881177, ss281651146, ss286674289, ss481942299, ss1642327943, ss1713378030, ss2635043588, ss3642992450 NC_000013.9:27391996:G:A NC_000013.11:27919859:G:A (self)
60447385, 33572268, 23765208, 3232184, 35647613, 12892701, 227159, 15633719, 31666830, 8432392, 67263104, 33572268, 7447112, ss226096435, ss236188543, ss242696607, ss481975724, ss482931669, ss485764861, ss537614369, ss563568379, ss659163997, ss778717052, ss783328242, ss784280003, ss832589973, ss834176363, ss990223205, ss1078959622, ss1347599809, ss1427138745, ss1576691588, ss1629946656, ss1672940689, ss1752099160, ss1807539231, ss1933591789, ss1967742239, ss2027551595, ss2155916038, ss2628263886, ss2633043137, ss2700288087, ss2917887120, ss3010766231, ss3350379449, ss3627028450, ss3631047451, ss3633043956, ss3633746066, ss3634537120, ss3635436292, ss3636223683, ss3637187346, ss3638001877, ss3640244451, ss3678026960, ss3739607836, ss3744837855, ss3751269747, ss3772336970, ss3833464071, ss3840309179, ss3879649850, ss3928470219, ss3984677659, ss4017624185, ss5209293797, ss5237523645, ss5315671123, ss5409773602, ss5510917375, ss5624320052, ss5654456186, ss5799892317, ss5839259951, ss5847421432, ss5847693189, ss5945862420, ss5979413194, ss5980781925 NC_000013.10:28493996:G:A NC_000013.11:27919859:G:A (self)
RCV000828829.3, 79393098, 426237572, 954147, 29635940, 94805530, 156370170, 1011330578, ss2195060857, ss3027591183, ss3694981417, ss3816600471, ss3845793863, ss3973257939, ss4940824512, ss5293190313, ss5487607827, ss5591867163, ss5760968426, ss5813974470, ss5850659804, ss5924476886 NC_000013.11:27919859:G:A NC_000013.11:27919859:G:A (self)
ss13308531 NT_009799.12:9473996:G:A NC_000013.11:27919859:G:A (self)
ss75003161, ss103106119, ss119596749, ss161001151, ss174871965 NT_024524.14:9473996:G:A NC_000013.11:27919859:G:A (self)
Help

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

5 citations for rs9581943
PMID Title Author Year Journal
25086665 Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. Wolpin BM et al. 2014 Nature genetics
25658847 Do variants associated with susceptibility to pancreatic cancer and type 2 diabetes reciprocally affect risk? Wu L et al. 2015 PloS one
26929738 Pancreatic Cancer Genetics. Amundadottir LT et al. 2016 International journal of biological sciences
27708512 Genetic factors affecting patient responses to pancreatic cancer treatment. Fotopoulos G et al. 2016 Annals of gastroenterology
34696776 PDX1 and MC4R genetic polymorphisms are associated with type 2 diabetes mellitus risk in the Chinese Han population. Wang N et al. 2021 BMC medical genomics
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