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dbSNP Short Genetic Variations

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.

rs11651755

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr17:37739849 (GRCh38.p12) 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
T=0.47199 (59267/125568, TOPMED)
T=0.4736 (37270/78698, PAGE_STUDY)
C=0.4983 (15575/31258, GnomAD) (+ 6 more)
C=0.467 (2340/5008, 1000G)
C=0.400 (1791/4480, Estonian)
C=0.478 (1841/3854, ALSPAC)
C=0.489 (1815/3708, TWINSUK)
C=0.43 (257/600, NorthernSweden)
C=0.22 (47/212, Vietnamese)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
HNF1B : Intron Variant
Publications
2 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.p12 chr 17 NC_000017.11:g.37739849T>C
HNF1B RefSeqGene NG_013019.2:g.10258A>G
GRCh38.p12 chr 17 alt locus HSCHR17_7_CTG4 NT_187614.1:g.1978905C>T
GRCh37.p13 chr 17 NC_000017.10:g.36099840C>T
Gene: HNF1B, HNF1 homeobox B (minus strand)
Molecule type Change Amino acid[Codon] SO Term
HNF1B transcript variant 1 NM_000458.4:c. N/A Intron Variant
HNF1B transcript variant 2 NM_001165923.4:c. N/A Intron Variant
HNF1B transcript variant 3 NM_001304286.2:c. N/A Intron Variant
HNF1B transcript variant X1 XM_011525160.1:c. N/A Intron Variant
HNF1B transcript variant X2 XM_011525161.1:c. N/A Intron Variant
HNF1B transcript variant X3 XM_011525162.2:c. N/A Intron Variant
HNF1B transcript variant X4 XM_011525163.2:c. N/A Intron Variant
HNF1B transcript variant X5 XM_011525164.1:c. N/A Intron 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

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 125568 T=0.47199 C=0.52801
The PAGE Study Global Study-wide 78698 T=0.4736 C=0.5264
The PAGE Study AfricanAmerican Sub 32516 T=0.3379 C=0.6621
The PAGE Study Mexican Sub 10808 T=0.5976 C=0.4024
The PAGE Study Asian Sub 8318 T=0.685 C=0.315
The PAGE Study PuertoRican Sub 7918 T=0.483 C=0.517
The PAGE Study NativeHawaiian Sub 4534 T=0.689 C=0.311
The PAGE Study Cuban Sub 4230 T=0.455 C=0.545
The PAGE Study Dominican Sub 3828 T=0.423 C=0.577
The PAGE Study CentralAmerican Sub 2448 T=0.526 C=0.474
The PAGE Study SouthAmerican Sub 1982 T=0.605 C=0.395
The PAGE Study NativeAmerican Sub 1260 T=0.539 C=0.461
The PAGE Study SouthAsian Sub 856 T=0.55 C=0.45
gnomAD - Genomes Global Study-wide 31258 T=0.5017 C=0.4983
gnomAD - Genomes European Sub 18836 T=0.5535 C=0.4465
gnomAD - Genomes African Sub 8656 T=0.331 C=0.669
gnomAD - Genomes East Asian Sub 1550 T=0.739 C=0.261
gnomAD - Genomes Other Sub 1084 T=0.576 C=0.424
gnomAD - Genomes American Sub 844 T=0.59 C=0.41
gnomAD - Genomes Ashkenazi Jewish Sub 288 T=0.43 C=0.57
1000Genomes Global Study-wide 5008 T=0.533 C=0.467
1000Genomes African Sub 1322 T=0.281 C=0.719
1000Genomes East Asian Sub 1008 T=0.770 C=0.230
1000Genomes Europe Sub 1006 T=0.517 C=0.483
1000Genomes South Asian Sub 978 T=0.60 C=0.40
1000Genomes American Sub 694 T=0.60 C=0.40
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.600 C=0.400
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.522 C=0.478
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.511 C=0.489
Northern Sweden ACPOP Study-wide 600 T=0.57 C=0.43
A Vietnamese Genetic Variation Database Global Study-wide 212 T=0.78 C=0.22
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 Note
GRCh38.p12 chr 17 NC_000017.11:g.37739849= NC_000017.11:g.37739849T>C
HNF1B RefSeqGene NG_013019.2:g.10258= NG_013019.2:g.10258A>G
GRCh38.p12 chr 17 alt locus HSCHR17_7_CTG4 NT_187614.1:g.1978905C>T NT_187614.1:g.1978905=
GRCh37.p13 chr 17 NC_000017.10:g.36099840C>T NC_000017.10:g.36099840=
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#.

94 SubSNP, 9 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss16737000 Feb 28, 2004 (120)
2 SSAHASNP ss21427487 Apr 05, 2004 (123)
3 AFFY ss76667221 Dec 07, 2007 (129)
4 KRIBB_YJKIM ss105031362 Feb 05, 2009 (130)
5 BGI ss106505667 Feb 05, 2009 (130)
6 1000GENOMES ss109748335 Jan 24, 2009 (130)
7 1000GENOMES ss113503844 Jan 25, 2009 (130)
8 ILLUMINA-UK ss118048019 Feb 14, 2009 (130)
9 GMI ss158010436 Dec 01, 2009 (131)
10 ILLUMINA ss159990166 Dec 01, 2009 (131)
11 COMPLETE_GENOMICS ss169543148 Jul 04, 2010 (132)
12 COMPLETE_GENOMICS ss171361269 Jul 04, 2010 (132)
13 BUSHMAN ss202481666 Jul 04, 2010 (132)
14 BCM-HGSC-SUB ss207966248 Jul 04, 2010 (132)
15 1000GENOMES ss227536366 Jul 14, 2010 (132)
16 WTCCC ss230392700 Jul 04, 2010 (132)
17 1000GENOMES ss237235153 Jul 15, 2010 (132)
18 1000GENOMES ss243535887 Jul 15, 2010 (132)
19 BL ss255615864 May 09, 2011 (134)
20 GMI ss282756533 May 04, 2012 (137)
21 GMI ss287176593 Apr 25, 2013 (138)
22 PJP ss292045567 May 09, 2011 (134)
23 ILLUMINA ss410894377 Sep 17, 2011 (135)
24 ILLUMINA ss479553720 May 04, 2012 (137)
25 ILLUMINA ss479557869 May 04, 2012 (137)
26 ILLUMINA ss480026541 Sep 08, 2015 (146)
27 ILLUMINA ss484575741 May 04, 2012 (137)
28 ILLUMINA ss536708500 Sep 08, 2015 (146)
29 TISHKOFF ss565256493 Apr 25, 2013 (138)
30 SSMP ss661057623 Apr 25, 2013 (138)
31 ILLUMINA ss778386789 Sep 08, 2015 (146)
32 ILLUMINA ss782734636 Sep 08, 2015 (146)
33 ILLUMINA ss783701762 Sep 08, 2015 (146)
34 ILLUMINA ss831986445 Sep 08, 2015 (146)
35 ILLUMINA ss833841815 Sep 08, 2015 (146)
36 EVA-GONL ss993078853 Aug 21, 2014 (142)
37 JMKIDD_LAB ss1081039533 Aug 21, 2014 (142)
38 1000GENOMES ss1358531691 Aug 21, 2014 (142)
39 DDI ss1428025666 Apr 01, 2015 (144)
40 EVA_GENOME_DK ss1578146684 Apr 01, 2015 (144)
41 EVA_UK10K_ALSPAC ss1635593368 Apr 01, 2015 (144)
42 EVA_UK10K_TWINSUK ss1678587401 Apr 01, 2015 (144)
43 EVA_DECODE ss1697120369 Apr 01, 2015 (144)
44 EVA_SVP ss1713580721 Apr 01, 2015 (144)
45 ILLUMINA ss1752223350 Sep 08, 2015 (146)
46 HAMMER_LAB ss1808769658 Sep 08, 2015 (146)
47 WEILL_CORNELL_DGM ss1936536695 Feb 12, 2016 (147)
48 ILLUMINA ss1946443357 Feb 12, 2016 (147)
49 ILLUMINA ss1959742872 Feb 12, 2016 (147)
50 GENOMED ss1968385102 Jul 19, 2016 (147)
51 JJLAB ss2029047105 Sep 14, 2016 (149)
52 USC_VALOUEV ss2157513989 Dec 20, 2016 (150)
53 HUMAN_LONGEVITY ss2216606363 Dec 20, 2016 (150)
54 TOPMED ss2381692777 Dec 20, 2016 (150)
55 SYSTEMSBIOZJU ss2629019521 Nov 08, 2017 (151)
56 ILLUMINA ss2633393351 Nov 08, 2017 (151)
57 ILLUMINA ss2633393352 Nov 08, 2017 (151)
58 ILLUMINA ss2635069908 Nov 08, 2017 (151)
59 GRF ss2702075700 Nov 08, 2017 (151)
60 ILLUMINA ss2710848175 Nov 08, 2017 (151)
61 GNOMAD ss2949495039 Nov 08, 2017 (151)
62 AFFY ss2985730304 Nov 08, 2017 (151)
63 SWEGEN ss3015480233 Nov 08, 2017 (151)
64 ILLUMINA ss3021775456 Nov 08, 2017 (151)
65 BIOINF_KMB_FNS_UNIBA ss3028344318 Nov 08, 2017 (151)
66 TOPMED ss3261969604 Nov 08, 2017 (151)
67 CSHL ss3351733190 Nov 08, 2017 (151)
68 ILLUMINA ss3625708601 Oct 12, 2018 (152)
69 ILLUMINA ss3627661745 Oct 12, 2018 (152)
70 ILLUMINA ss3631374772 Oct 12, 2018 (152)
71 ILLUMINA ss3633140679 Oct 12, 2018 (152)
72 ILLUMINA ss3633848113 Oct 12, 2018 (152)
73 ILLUMINA ss3634673148 Oct 12, 2018 (152)
74 ILLUMINA ss3635535897 Oct 12, 2018 (152)
75 ILLUMINA ss3636363038 Oct 12, 2018 (152)
76 ILLUMINA ss3637287432 Oct 12, 2018 (152)
77 ILLUMINA ss3640380462 Oct 12, 2018 (152)
78 ILLUMINA ss3641080391 Oct 12, 2018 (152)
79 ILLUMINA ss3641375875 Oct 12, 2018 (152)
80 ILLUMINA ss3644686737 Oct 12, 2018 (152)
81 URBANLAB ss3650646906 Oct 12, 2018 (152)
82 ILLUMINA ss3652190162 Oct 12, 2018 (152)
83 EGCUT_WGS ss3682376930 Jul 13, 2019 (153)
84 EVA_DECODE ss3700404761 Jul 13, 2019 (153)
85 ILLUMINA ss3725617757 Jul 13, 2019 (153)
86 ACPOP ss3742001284 Jul 13, 2019 (153)
87 ILLUMINA ss3744149749 Jul 13, 2019 (153)
88 ILLUMINA ss3744973451 Jul 13, 2019 (153)
89 EVA ss3754632832 Jul 13, 2019 (153)
90 PAGE_CC ss3771924737 Jul 13, 2019 (153)
91 ILLUMINA ss3772471361 Jul 13, 2019 (153)
92 PACBIO ss3788194348 Jul 13, 2019 (153)
93 PACBIO ss3793153723 Jul 13, 2019 (153)
94 PACBIO ss3798039650 Jul 13, 2019 (153)
95 1000Genomes NC_000017.10 - 36099840 Oct 12, 2018 (152)
96 The Avon Longitudinal Study of Parents and Children NC_000017.10 - 36099840 Oct 12, 2018 (152)
97 Genetic variation in the Estonian population NC_000017.10 - 36099840 Oct 12, 2018 (152)
98 gnomAD - Genomes NC_000017.10 - 36099840 Jul 13, 2019 (153)
99 Northern Sweden NC_000017.10 - 36099840 Jul 13, 2019 (153)
100 The PAGE Study NC_000017.11 - 37739849 Jul 13, 2019 (153)
101 TopMed NC_000017.11 - 37739849 Oct 12, 2018 (152)
102 UK 10K study - Twins NC_000017.10 - 36099840 Oct 12, 2018 (152)
103 A Vietnamese Genetic Variation Database NC_000017.10 - 36099840 Jul 13, 2019 (153)
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)
rs12951129 Sep 24, 2004 (123)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss109748335, ss113503844, ss118048019, ss169543148, ss171361269, ss202481666, ss207966248, ss255615864, ss282756533, ss287176593, ss292045567, ss479553720, ss1697120369, ss1713580721, ss2635069908 NC_000017.9:33173952:C:C NC_000017.11:37739848:T:C (self)
71768758, 39782265, 28115178, 195831835, 15286149, 39782265, 8806113, ss227536366, ss237235153, ss243535887, ss479557869, ss480026541, ss484575741, ss536708500, ss565256493, ss661057623, ss778386789, ss782734636, ss783701762, ss831986445, ss833841815, ss993078853, ss1081039533, ss1358531691, ss1428025666, ss1578146684, ss1635593368, ss1678587401, ss1752223350, ss1808769658, ss1936536695, ss1946443357, ss1959742872, ss1968385102, ss2029047105, ss2157513989, ss2381692777, ss2629019521, ss2633393351, ss2633393352, ss2702075700, ss2710848175, ss2949495039, ss2985730304, ss3015480233, ss3021775456, ss3351733190, ss3625708601, ss3627661745, ss3631374772, ss3633140679, ss3633848113, ss3634673148, ss3635535897, ss3636363038, ss3637287432, ss3640380462, ss3641080391, ss3641375875, ss3644686737, ss3652190162, ss3682376930, ss3742001284, ss3744149749, ss3744973451, ss3754632832, ss3772471361, ss3788194348, ss3793153723, ss3798039650 NC_000017.10:36099839:C:C NC_000017.11:37739848:T:C (self)
1146206, 156285495, ss2216606363, ss3028344318, ss3261969604, ss3650646906, ss3700404761, ss3725617757, ss3771924737 NC_000017.11:37739848:T:C NC_000017.11:37739848:T:C (self)
ss76667221, ss105031362, ss106505667, ss158010436, ss159990166, ss410894377 NT_010783.15:1373991:C:C NC_000017.11:37739848:T:C (self)
ss16737000, ss21427487, ss230392700 NT_078100.1:1373991:C:C NC_000017.11:37739848: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.

2 citations for rs11651755
PMID Title Author Year Journal
21499250 Genome-wide association study identifies a common variant associated with risk of endometrial cancer. Spurdle AB et al. 2011 Nature genetics
28214017 Genetic risk factors for ovarian cancer and their role for endometriosis risk. Burghaus S et al. 2017 Gynecologic oncology

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.post246+3cda961