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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.

rs2464196

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr12:120997624 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.33782 (82036/242836, GnomAD)
A=0.26847 (33711/125568, TOPMED)
A=0.34651 (39122/112904, ExAC) (+ 6 more)
A=0.2682 (8294/30924, GnomAD)
A=0.2473 (3217/13006, GO-ESP)
A=0.318 (1591/5008, 1000G)
A=0.309 (1383/4480, Estonian)
A=0.300 (1156/3854, ALSPAC)
A=0.294 (1090/3708, TWINSUK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
HNF1A : Missense Variant
Publications
27 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 12 NC_000012.12:g.120997624G>A
GRCh37.p13 chr 12 NC_000012.11:g.121435427G>A
HNF1A RefSeqGene (LRG_522) NG_011731.2:g.23879G>A
Gene: HNF1A, HNF1 homeobox A (plus strand)
Molecule type Change Amino acid[Codon] SO Term
HNF1A transcript variant 1 NM_001306179.1:c.1460G>A S [AGC] > N [AAC] Coding Sequence Variant
hepatocyte nuclear factor 1-alpha isoform 1 NP_001293108.1:p.Ser487Asn S (Ser) > N (Asn) Missense Variant
HNF1A transcript variant 2 NM_000545.6:c.1460G>A S [AGC] > N [AAC] Coding Sequence Variant
hepatocyte nuclear factor 1-alpha isoform 2 NP_000536.5:p.Ser487Asn S (Ser) > N (Asn) Missense Variant
HNF1A transcript variant X1 XM_024449168.1:c.1460G>A S [AGC] > N [AAC] Coding Sequence Variant
hepatocyte nuclear factor 1-alpha isoform X1 XP_024304936.1:p.Ser487Asn S (Ser) > N (Asn) Missense 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: 134676 )
ClinVar Accession Disease Names Clinical Significance
RCV000117227.7 not specified Benign
RCV000320780.1 Maturity onset diabetes mellitus in young Benign
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
gnomAD - Exomes Global Study-wide 242836 G=0.66218 A=0.33782
gnomAD - Exomes European Sub 131732 G=0.69241 A=0.30759
gnomAD - Exomes Asian Sub 47572 G=0.5576 A=0.4424
gnomAD - Exomes American Sub 33250 G=0.6304 A=0.3696
gnomAD - Exomes African Sub 15106 G=0.8804 A=0.1196
gnomAD - Exomes Ashkenazi Jewish Sub 9786 G=0.537 A=0.463
gnomAD - Exomes Other Sub 5390 G=0.657 A=0.343
TopMed Global Study-wide 125568 G=0.73153 A=0.26847
gnomAD - Genomes Global Study-wide 30924 G=0.7318 A=0.2682
gnomAD - Genomes European Sub 18462 G=0.6927 A=0.3073
gnomAD - Genomes African Sub 8728 G=0.877 A=0.123
gnomAD - Genomes East Asian Sub 1614 G=0.516 A=0.484
gnomAD - Genomes Other Sub 980 G=0.67 A=0.33
gnomAD - Genomes American Sub 838 G=0.64 A=0.36
gnomAD - Genomes Ashkenazi Jewish Sub 302 G=0.55 A=0.45
GO Exome Sequencing Project Global Study-wide 13006 G=0.7527 A=0.2473
GO Exome Sequencing Project European American Sub 8600 G=0.689 A=0.311
GO Exome Sequencing Project African American Sub 4406 G=0.877 A=0.123
1000Genomes Global Study-wide 5008 G=0.682 A=0.318
1000Genomes African Sub 1322 G=0.888 A=0.112
1000Genomes East Asian Sub 1008 G=0.527 A=0.473
1000Genomes Europe Sub 1006 G=0.684 A=0.316
1000Genomes South Asian Sub 978 G=0.59 A=0.41
1000Genomes American Sub 694 G=0.65 A=0.35
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.691 A=0.309
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.700 A=0.300
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.706 A=0.294
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 Note
GRCh38.p12 chr 12 NC_000012.12:g.120997624G= NC_000012.12:g.12099762...

NC_000012.12:g.120997624G>A

GRCh37.p13 chr 12 NC_000012.11:g.121435427G= NC_000012.11:g.12143542...

NC_000012.11:g.121435427G>A

HNF1A RefSeqGene (LRG_522) NG_011731.2:g.23879G= NG_011731.2:g.23879G>A
HNF1A transcript variant 2 NM_000545.6:c.1460G= NM_000545.6:c.1460G>A
HNF1A transcript NM_000545.5:c.1460G= NM_000545.5:c.1460G>A
HNF1A transcript variant 1 NM_001306179.1:c.1460G= NM_001306179.1:c.1460G>A
HNF1A transcript variant X1 XM_024449168.1:c.1460G= XM_024449168.1:c.1460G>A
hepatocyte nuclear factor 1-alpha isoform 2 NP_000536.5:p.Ser487= NP_000536.5:p.Ser487Asn
hepatocyte nuclear factor 1-alpha isoform 1 NP_001293108.1:p.Ser487= NP_001293108.1:p.Ser487Asn
hepatocyte nuclear factor 1-alpha isoform X1 XP_024304936.1:p.Ser487= XP_024304936.1:p.Ser487Asn
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#.

122 SubSNP, 9 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss3454712 Sep 28, 2001 (100)
2 SC_JCM ss3827045 Sep 28, 2001 (102)
3 SC_JCM ss4160518 Nov 05, 2001 (101)
4 YUSUKE ss4474250 Jul 03, 2002 (106)
5 SC_SNP ss16130915 Feb 27, 2004 (120)
6 SSAHASNP ss20972102 Apr 05, 2004 (121)
7 PERLEGEN ss23933092 Sep 20, 2004 (123)
8 IMCJ-GDT ss28501805 Sep 24, 2004 (126)
9 ABI ss40105548 Mar 11, 2006 (126)
10 ILLUMINA ss65726939 Oct 15, 2006 (127)
11 ILLUMINA ss66557388 Nov 30, 2006 (127)
12 ILLUMINA ss67255910 Nov 30, 2006 (127)
13 ILLUMINA ss67654270 Nov 30, 2006 (127)
14 ILLUMINA ss70734260 May 23, 2008 (130)
15 ILLUMINA ss71304189 May 17, 2007 (127)
16 PGA-UW-FHCRC ss73416328 Dec 07, 2007 (129)
17 ILLUMINA ss75786546 Dec 07, 2007 (129)
18 SI_EXO ss76897217 Dec 07, 2007 (129)
19 ILLUMINA ss79136098 Dec 14, 2007 (130)
20 KRIBB_YJKIM ss84051433 Dec 14, 2007 (130)
21 BCMHGSC_JDW ss89424054 Mar 24, 2008 (129)
22 HUMANGENOME_JCVI ss97346269 Feb 03, 2009 (130)
23 BGI ss103088345 Dec 01, 2009 (131)
24 ILLUMINA ss122041571 Dec 01, 2009 (131)
25 ENSEMBL ss133394000 Dec 01, 2009 (131)
26 ILLUMINA ss153914094 Dec 01, 2009 (131)
27 ILLUMINA ss159391892 Dec 01, 2009 (131)
28 SEATTLESEQ ss159727423 Dec 01, 2009 (131)
29 ILLUMINA ss160550079 Dec 01, 2009 (131)
30 ILLUMINA ss171268277 Jul 04, 2010 (132)
31 ILLUMINA ss173357451 Jul 04, 2010 (132)
32 COMPLETE_GENOMICS ss175285826 Jul 04, 2010 (132)
33 BUSHMAN ss198775313 Jul 04, 2010 (132)
34 1000GENOMES ss225997914 Jul 14, 2010 (132)
35 1000GENOMES ss236114827 Jul 15, 2010 (132)
36 1000GENOMES ss242637579 Jul 15, 2010 (132)
37 ILLUMINA ss244290644 Jul 04, 2010 (132)
38 GMI ss281574038 May 04, 2012 (137)
39 PJP ss291354036 May 09, 2011 (134)
40 NHLBI-ESP ss342369204 May 09, 2011 (134)
41 ILLUMINA ss410923402 Sep 17, 2011 (135)
42 ILLUMINA ss480577147 May 04, 2012 (137)
43 ILLUMINA ss480591659 May 04, 2012 (137)
44 ILLUMINA ss481414621 Sep 08, 2015 (146)
45 ILLUMINA ss485084076 May 04, 2012 (137)
46 1000GENOMES ss491053340 May 04, 2012 (137)
47 EXOME_CHIP ss491474767 May 04, 2012 (137)
48 CLINSEQ_SNP ss491673963 May 04, 2012 (137)
49 ILLUMINA ss537093905 Sep 08, 2015 (146)
50 TISHKOFF ss563449702 Apr 25, 2013 (138)
51 SSMP ss659034415 Apr 25, 2013 (138)
52 ILLUMINA ss778869995 Sep 08, 2015 (146)
53 ILLUMINA ss780693499 Sep 08, 2015 (146)
54 ILLUMINA ss782988337 Aug 21, 2014 (142)
55 ILLUMINA ss783367360 Sep 08, 2015 (146)
56 ILLUMINA ss783949186 Sep 08, 2015 (146)
57 ILLUMINA ss825466616 Apr 01, 2015 (144)
58 ILLUMINA ss832245078 Apr 01, 2015 (144)
59 ILLUMINA ss832903638 Aug 21, 2014 (142)
60 ILLUMINA ss833494468 Aug 21, 2014 (142)
61 ILLUMINA ss834330879 Sep 08, 2015 (146)
62 JMKIDD_LAB ss974485528 Aug 21, 2014 (142)
63 EVA-GONL ss990032641 Aug 21, 2014 (142)
64 JMKIDD_LAB ss1067538504 Aug 21, 2014 (142)
65 JMKIDD_LAB ss1078824567 Aug 21, 2014 (142)
66 1000GENOMES ss1346920685 Aug 21, 2014 (142)
67 DDI ss1427075194 Apr 01, 2015 (144)
68 CLINVAR ss1457609996 Nov 23, 2014 (142)
69 EVA_GENOME_DK ss1576568546 Apr 01, 2015 (144)
70 EVA_FINRISK ss1584085047 Apr 01, 2015 (144)
71 EVA_UK10K_ALSPAC ss1629598238 Apr 01, 2015 (144)
72 EVA_UK10K_TWINSUK ss1672592271 Apr 01, 2015 (144)
73 EVA_EXAC ss1691150074 Apr 01, 2015 (144)
74 EVA_MGP ss1711345828 Apr 01, 2015 (144)
75 EVA_SVP ss1713363936 Apr 01, 2015 (144)
76 ILLUMINA ss1752050603 Sep 08, 2015 (146)
77 ILLUMINA ss1752050604 Sep 08, 2015 (146)
78 ILLUMINA ss1917879755 Feb 12, 2016 (147)
79 WEILL_CORNELL_DGM ss1933387294 Feb 12, 2016 (147)
80 ILLUMINA ss1946351887 Feb 12, 2016 (147)
81 ILLUMINA ss1959472531 Feb 12, 2016 (147)
82 JJLAB ss2027450025 Sep 14, 2016 (149)
83 ILLUMINA ss2094794456 Dec 20, 2016 (150)
84 ILLUMINA ss2095040688 Dec 20, 2016 (150)
85 USC_VALOUEV ss2155804698 Dec 20, 2016 (150)
86 HUMAN_LONGEVITY ss2193780384 Dec 20, 2016 (150)
87 TOPMED ss2357803170 Dec 20, 2016 (150)
88 SYSTEMSBIOZJU ss2628207793 Nov 08, 2017 (151)
89 ILLUMINA ss2633018526 Nov 08, 2017 (151)
90 GRF ss2700164553 Nov 08, 2017 (151)
91 GNOMAD ss2740198565 Nov 08, 2017 (151)
92 GNOMAD ss2748980209 Nov 08, 2017 (151)
93 GNOMAD ss2915980702 Nov 08, 2017 (151)
94 AFFY ss2984993452 Nov 08, 2017 (151)
95 SWEGEN ss3010464900 Nov 08, 2017 (151)
96 ILLUMINA ss3021474056 Nov 08, 2017 (151)
97 EVA_SAMSUNG_MC ss3023068050 Nov 08, 2017 (151)
98 BIOINF_KMB_FNS_UNIBA ss3027535681 Nov 08, 2017 (151)
99 TOPMED ss3183509851 Nov 08, 2017 (151)
100 CSHL ss3350282191 Nov 08, 2017 (151)
101 ILLUMINA ss3626986293 Oct 12, 2018 (152)
102 ILLUMINA ss3626986294 Oct 12, 2018 (152)
103 ILLUMINA ss3631024340 Oct 12, 2018 (152)
104 ILLUMINA ss3633037089 Oct 12, 2018 (152)
105 ILLUMINA ss3633738761 Oct 12, 2018 (152)
106 ILLUMINA ss3634527601 Oct 12, 2018 (152)
107 ILLUMINA ss3634527602 Oct 12, 2018 (152)
108 ILLUMINA ss3635429172 Oct 12, 2018 (152)
109 ILLUMINA ss3636213645 Oct 12, 2018 (152)
110 ILLUMINA ss3637180187 Oct 12, 2018 (152)
111 ILLUMINA ss3637991492 Oct 12, 2018 (152)
112 ILLUMINA ss3639008611 Oct 12, 2018 (152)
113 ILLUMINA ss3639507361 Oct 12, 2018 (152)
114 ILLUMINA ss3640234934 Oct 12, 2018 (152)
115 ILLUMINA ss3640234935 Oct 12, 2018 (152)
116 ILLUMINA ss3642982791 Oct 12, 2018 (152)
117 ILLUMINA ss3644604903 Oct 12, 2018 (152)
118 OMUKHERJEE_ADBS ss3646448315 Oct 12, 2018 (152)
119 URBANLAB ss3649936038 Oct 12, 2018 (152)
120 ILLUMINA ss3651857439 Oct 12, 2018 (152)
121 ILLUMINA ss3651857440 Oct 12, 2018 (152)
122 ILLUMINA ss3653763508 Oct 12, 2018 (152)
123 1000Genomes NC_000012.11 - 121435427 Oct 12, 2018 (152)
124 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 121435427 Oct 12, 2018 (152)
125 Genetic variation in the Estonian population NC_000012.11 - 121435427 Oct 12, 2018 (152)
126 ExAC NC_000012.11 - 121435427 Oct 12, 2018 (152)
127 gnomAD - Genomes NC_000012.11 - 121435427 Oct 12, 2018 (152)
128 gnomAD - Exomes NC_000012.11 - 121435427 Oct 12, 2018 (152)
129 GO Exome Sequencing Project NC_000012.11 - 121435427 Oct 12, 2018 (152)
130 TopMed NC_000012.12 - 120997624 Oct 12, 2018 (152)
131 UK 10K study - Twins NC_000012.11 - 121435427 Oct 12, 2018 (152)
132 ClinVar RCV000117227.7 Oct 12, 2018 (152)
133 ClinVar RCV000320780.1 Oct 12, 2018 (152)
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)
rs2708085 Jan 04, 2002 (102)
rs16950667 Oct 08, 2004 (123)
rs17847503 Mar 11, 2006 (126)
rs56962510 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss3639008611, ss3639507361 NC_000012.9:119898146:G= NC_000012.12:120997623:G=
ss89424054, ss175285826, ss198775313, ss281574038, ss291354036, ss410923402, ss480577147, ss491673963, ss825466616, ss1713363936, ss3642982791 NC_000012.10:119919809:G= NC_000012.12:120997623:G= (self)
59742018, 33184995, 23504363, 1467421, 49682225, 7474024, 1237253, 33184995, ss225997914, ss236114827, ss242637579, ss342369204, ss480591659, ss481414621, ss485084076, ss491053340, ss491474767, ss537093905, ss563449702, ss659034415, ss778869995, ss780693499, ss782988337, ss783367360, ss783949186, ss832245078, ss832903638, ss833494468, ss834330879, ss974485528, ss990032641, ss1067538504, ss1078824567, ss1346920685, ss1427075194, ss1576568546, ss1584085047, ss1629598238, ss1672592271, ss1691150074, ss1711345828, ss1752050603, ss1752050604, ss1917879755, ss1933387294, ss1946351887, ss1959472531, ss2027450025, ss2094794456, ss2095040688, ss2155804698, ss2357803170, ss2628207793, ss2633018526, ss2700164553, ss2740198565, ss2748980209, ss2915980702, ss2984993452, ss3010464900, ss3021474056, ss3023068050, ss3350282191, ss3626986293, ss3626986294, ss3631024340, ss3633037089, ss3633738761, ss3634527601, ss3634527602, ss3635429172, ss3636213645, ss3637180187, ss3637991492, ss3640234934, ss3640234935, ss3644604903, ss3646448315, ss3651857439, ss3651857440, ss3653763508 NC_000012.11:121435426:G= NC_000012.12:120997623:G= (self)
94291528, ss1457609996, ss2193780384, ss3027535681, ss3183509851, ss3649936038 NC_000012.12:120997623:G= NC_000012.12:120997623:G= (self)
ss16130915, ss20972102 NT_009775.14:11954168:G= NC_000012.12:120997623:G= (self)
ss76897217 NT_009775.16:12004935:G= NC_000012.12:120997623:G= (self)
ss3454712, ss3827045, ss4160518, ss4474250, ss23933092, ss28501805, ss40105548, ss65726939, ss66557388, ss67255910, ss67654270, ss70734260, ss71304189, ss73416328, ss75786546, ss79136098, ss84051433, ss97346269, ss103088345, ss122041571, ss133394000, ss153914094, ss159391892, ss159727423, ss160550079, ss171268277, ss173357451, ss244290644 NT_009775.17:12011956:G= NC_000012.12:120997623:G= (self)
ss3639008611, ss3639507361 NC_000012.9:119898146:G>A NC_000012.12:120997623:G>A
ss89424054, ss175285826, ss198775313, ss281574038, ss291354036, ss410923402, ss480577147, ss491673963, ss825466616, ss1713363936, ss3642982791 NC_000012.10:119919809:G>A NC_000012.12:120997623:G>A (self)
59742018, 33184995, 23504363, 1467421, 49682225, 7474024, 1237253, 33184995, ss225997914, ss236114827, ss242637579, ss342369204, ss480591659, ss481414621, ss485084076, ss491053340, ss491474767, ss537093905, ss563449702, ss659034415, ss778869995, ss780693499, ss782988337, ss783367360, ss783949186, ss832245078, ss832903638, ss833494468, ss834330879, ss974485528, ss990032641, ss1067538504, ss1078824567, ss1346920685, ss1427075194, ss1576568546, ss1584085047, ss1629598238, ss1672592271, ss1691150074, ss1711345828, ss1752050603, ss1752050604, ss1917879755, ss1933387294, ss1946351887, ss1959472531, ss2027450025, ss2094794456, ss2095040688, ss2155804698, ss2357803170, ss2628207793, ss2633018526, ss2700164553, ss2740198565, ss2748980209, ss2915980702, ss2984993452, ss3010464900, ss3021474056, ss3023068050, ss3350282191, ss3626986293, ss3626986294, ss3631024340, ss3633037089, ss3633738761, ss3634527601, ss3634527602, ss3635429172, ss3636213645, ss3637180187, ss3637991492, ss3640234934, ss3640234935, ss3644604903, ss3646448315, ss3651857439, ss3651857440, ss3653763508 NC_000012.11:121435426:G>A NC_000012.12:120997623:G>A (self)
RCV000117227.7, RCV000320780.1, 94291528, ss1457609996, ss2193780384, ss3027535681, ss3183509851, ss3649936038 NC_000012.12:120997623:G>A NC_000012.12:120997623:G>A (self)
ss16130915, ss20972102 NT_009775.14:11954168:G>A NC_000012.12:120997623:G>A (self)
ss76897217 NT_009775.16:12004935:G>A NC_000012.12:120997623:G>A (self)
ss3454712, ss3827045, ss4160518, ss4474250, ss23933092, ss28501805, ss40105548, ss65726939, ss66557388, ss67255910, ss67654270, ss70734260, ss71304189, ss73416328, ss75786546, ss79136098, ss84051433, ss97346269, ss103088345, ss122041571, ss133394000, ss153914094, ss159391892, ss159727423, ss160550079, ss171268277, ss173357451, ss244290644 NT_009775.17:12011956:G>A NC_000012.12:120997623: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.

27 citations for rs2464196
PMID Title Author Year Journal
18439548 Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study. Ridker PM et al. 2008 American journal of human genetics
18439552 Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein. Reiner AP et al. 2008 American journal of human genetics
18940312 Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. Yuan X et al. 2008 American journal of human genetics
19490620 HNF1A gene polymorphisms and cardiovascular risk factors in individuals with late-onset autosomal dominant diabetes: a cross-sectional study. Giuffrida FM et al. 2009 Cardiovascular diabetology
20031592 Common coding variants of the HNF1A gene are associated with multiple cardiovascular risk phenotypes in community-based samples of younger and older European-American adults: the Coronary Artery Risk Development in Young Adults Study and The Cardiovascular Health Study. Reiner AP et al. 2009 Circulation. Cardiovascular genetics
20416077 Identification of type 2 diabetes-associated combination of SNPs using support vector machine. Ban HJ et al. 2010 BMC genetics
20727736 C-reactive protein-associated genetic variants and cancer risk: findings from FINRISK 1992, FINRISK 1997 and Health 2000 studies. Heikkilä K et al. 2011 European journal of cancer (Oxford, England
21195701 Effect of obesity on the association between common variations in the HNF1A gene region and C-reactive protein level in Taiwanese. Hsu LA et al. 2011 Clinica chimica acta; international journal of clinical chemistry
21498636 Genome-wide "pleiotropy scan" identifies HNF1A region as a novel pancreatic cancer susceptibility locus. Pierce BL et al. 2011 Cancer research
21647738 Genome-wide association with C-reactive protein levels in CLHNS: evidence for the CRP and HNF1A loci and their interaction with exposure to a pathogenic environment. Wu Y et al. 2012 Inflammation
21918647 Pathway-Targeted Pharmacogenomics of CYP1A2 in Human Liver. Klein K et al. 2010 Frontiers in pharmacology
21998633 Functional evaluation of genetic and environmental regulators of p450 mRNA levels. Wang D et al. 2011 PloS one
22523087 Pathway analysis of genome-wide association study data highlights pancreatic development genes as susceptibility factors for pancreatic cancer. Li D et al. 2012 Carcinogenesis
22938532 Sequencing and analysis of a South Asian-Indian personal genome. Gupta R et al. 2012 BMC genomics
24086368 An epistatic interaction between the PAX8 and STK17B genes in papillary thyroid cancer susceptibility. Landa I et al. 2013 PloS one
24159455 Development of a predictive model for type 2 diabetes mellitus using genetic and clinical data. Lee J et al. 2011 Osong public health and research perspectives
24728327 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. Bodian DL et al. 2014 PloS one
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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.post58+e54ea20