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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.

rs193922479

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:44424116 (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
C>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/264690, TOPMED)
T=0.000008 (2/248468, GnomAD_exome)
T=0.000007 (1/140292, GnomAD) (+ 3 more)
T=0.000009 (1/114556, ExAC)
T=0.00000 (0/78696, PAGE_STUDY)
T=0.00000 (0/14710, ALFA)
Clinical Significance
Reported in ClinVar
Gene : Consequence
HNF4A : Missense Variant
Publications
2 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 14710 C=1.00000 T=0.00000
European Sub 9768 C=1.0000 T=0.0000
African Sub 3332 C=1.0000 T=0.0000
African Others Sub 114 C=1.000 T=0.000
African American Sub 3218 C=1.0000 T=0.0000
Asian Sub 146 C=1.000 T=0.000
East Asian Sub 120 C=1.000 T=0.000
Other Asian Sub 26 C=1.00 T=0.00
Latin American 1 Sub 146 C=1.000 T=0.000
Latin American 2 Sub 610 C=1.000 T=0.000
South Asian Sub 104 C=1.000 T=0.000
Other Sub 604 C=1.000 T=0.000


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 C=0.999996 T=0.000004
gnomAD - Exomes Global Study-wide 248468 C=0.999992 T=0.000008
gnomAD - Exomes European Sub 133388 C=0.999985 T=0.000015
gnomAD - Exomes Asian Sub 48880 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 34476 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 15672 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 9972 C=1.0000 T=0.0000
gnomAD - Exomes Other Sub 6080 C=1.0000 T=0.0000
gnomAD - Genomes Global Study-wide 140292 C=0.999993 T=0.000007
gnomAD - Genomes European Sub 75960 C=0.99999 T=0.00001
gnomAD - Genomes African Sub 42060 C=1.00000 T=0.00000
gnomAD - Genomes American Sub 13664 C=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3130 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2154 C=1.0000 T=0.0000
ExAC Global Study-wide 114556 C=0.999991 T=0.000009
ExAC Europe Sub 68800 C=0.99999 T=0.00001
ExAC Asian Sub 24460 C=1.00000 T=0.00000
ExAC American Sub 11190 C=1.00000 T=0.00000
ExAC African Sub 9272 C=1.0000 T=0.0000
ExAC Other Sub 834 C=1.000 T=0.000
The PAGE Study Global Study-wide 78696 C=1.00000 T=0.00000
The PAGE Study AfricanAmerican Sub 32512 C=1.00000 T=0.00000
The PAGE Study Mexican Sub 10810 C=1.00000 T=0.00000
The PAGE Study Asian Sub 8318 C=1.0000 T=0.0000
The PAGE Study PuertoRican Sub 7918 C=1.0000 T=0.0000
The PAGE Study NativeHawaiian Sub 4534 C=1.0000 T=0.0000
The PAGE Study Cuban Sub 4230 C=1.0000 T=0.0000
The PAGE Study Dominican Sub 3828 C=1.0000 T=0.0000
The PAGE Study CentralAmerican Sub 2450 C=1.0000 T=0.0000
The PAGE Study SouthAmerican Sub 1982 C=1.0000 T=0.0000
The PAGE Study NativeAmerican Sub 1260 C=1.0000 T=0.0000
The PAGE Study SouthAsian Sub 854 C=1.000 T=0.000
Allele Frequency Aggregator Total Global 14710 C=1.00000 T=0.00000
Allele Frequency Aggregator European Sub 9768 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 3332 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Other Sub 604 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 104 C=1.000 T=0.000
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 20 NC_000020.11:g.44424116C>A
GRCh38.p14 chr 20 NC_000020.11:g.44424116C>T
GRCh37.p13 chr 20 NC_000020.10:g.43052756C>A
GRCh37.p13 chr 20 NC_000020.10:g.43052756C>T
HNF4A RefSeqGene (LRG_483) NG_009818.1:g.73316C>A
HNF4A RefSeqGene (LRG_483) NG_009818.1:g.73316C>T
Gene: HNF4A, hepatocyte nuclear factor 4 alpha (plus strand)
Molecule type Change Amino acid[Codon] SO Term
HNF4A transcript variant 8 NM_001287182.2:c.916C>A R [CGT] > S [AGT] Coding Sequence Variant
hepatocyte nuclear factor 4-alpha isoform 8 NP_001274111.1:p.Arg306Ser R (Arg) > S (Ser) Missense Variant
HNF4A transcript variant 8 NM_001287182.2:c.916C>T R [CGT] > C [TGT] Coding Sequence Variant
hepatocyte nuclear factor 4-alpha isoform 8 NP_001274111.1:p.Arg306Cys R (Arg) > C (Cys) Missense Variant
HNF4A transcript variant 3 NM_178850.3:c.991C>A R [CGT] > S [AGT] Coding Sequence Variant
hepatocyte nuclear factor 4-alpha isoform 3 NP_849181.1:p.Arg331Ser R (Arg) > S (Ser) Missense Variant
HNF4A transcript variant 3 NM_178850.3:c.991C>T R [CGT] > C [TGT] Coding Sequence Variant
hepatocyte nuclear factor 4-alpha isoform 3 NP_849181.1:p.Arg331Cys R (Arg) > C (Cys) Missense Variant
HNF4A transcript variant 10 NM_001287184.2:c.916C>A R [CGT] > S [AGT] Coding Sequence Variant
hepatocyte nuclear factor 4-alpha isoform 10 NP_001274113.1:p.Arg306Ser R (Arg) > S (Ser) Missense Variant
HNF4A transcript variant 10 NM_001287184.2:c.916C>T R [CGT] > C [TGT] Coding Sequence Variant
hepatocyte nuclear factor 4-alpha isoform 10 NP_001274113.1:p.Arg306Cys R (Arg) > C (Cys) Missense Variant
HNF4A transcript variant 7 NM_001258355.2:c.970C>A R [CGT] > S [AGT] Coding Sequence Variant
hepatocyte nuclear factor 4-alpha isoform 7 NP_001245284.1:p.Arg324Ser R (Arg) > S (Ser) Missense Variant
HNF4A transcript variant 7 NM_001258355.2:c.970C>T R [CGT] > C [TGT] Coding Sequence Variant
hepatocyte nuclear factor 4-alpha isoform 7 NP_001245284.1:p.Arg324Cys R (Arg) > C (Cys) Missense Variant
HNF4A transcript variant 4 NM_001030003.3:c.925C>A R [CGT] > S [AGT] Coding Sequence Variant
hepatocyte nuclear factor 4-alpha isoform 4 NP_001025174.1:p.Arg309Ser R (Arg) > S (Ser) Missense Variant
HNF4A transcript variant 4 NM_001030003.3:c.925C>T R [CGT] > C [TGT] Coding Sequence Variant
hepatocyte nuclear factor 4-alpha isoform 4 NP_001025174.1:p.Arg309Cys R (Arg) > C (Cys) Missense Variant
HNF4A transcript variant 6 NM_001030004.3:c.925C>A R [CGT] > S [AGT] Coding Sequence Variant
hepatocyte nuclear factor 4-alpha isoform 6 NP_001025175.1:p.Arg309Ser R (Arg) > S (Ser) Missense Variant
HNF4A transcript variant 6 NM_001030004.3:c.925C>T R [CGT] > C [TGT] Coding Sequence Variant
hepatocyte nuclear factor 4-alpha isoform 6 NP_001025175.1:p.Arg309Cys R (Arg) > C (Cys) Missense Variant
HNF4A transcript variant 1 NM_178849.3:c.991C>A R [CGT] > S [AGT] Coding Sequence Variant
hepatocyte nuclear factor 4-alpha isoform 1 NP_849180.1:p.Arg331Ser R (Arg) > S (Ser) Missense Variant
HNF4A transcript variant 1 NM_178849.3:c.991C>T R [CGT] > C [TGT] Coding Sequence Variant
hepatocyte nuclear factor 4-alpha isoform 1 NP_849180.1:p.Arg331Cys R (Arg) > C (Cys) Missense Variant
HNF4A transcript variant 5 NM_175914.5:c.925C>A R [CGT] > S [AGT] Coding Sequence Variant
hepatocyte nuclear factor 4-alpha isoform 5 NP_787110.2:p.Arg309Ser R (Arg) > S (Ser) Missense Variant
HNF4A transcript variant 5 NM_175914.5:c.925C>T R [CGT] > C [TGT] Coding Sequence Variant
hepatocyte nuclear factor 4-alpha isoform 5 NP_787110.2:p.Arg309Cys R (Arg) > C (Cys) Missense Variant
HNF4A transcript variant 9 NM_001287183.2:c.916C>A R [CGT] > S [AGT] Coding Sequence Variant
hepatocyte nuclear factor 4-alpha isoform 9 NP_001274112.1:p.Arg306Ser R (Arg) > S (Ser) Missense Variant
HNF4A transcript variant 9 NM_001287183.2:c.916C>T R [CGT] > C [TGT] Coding Sequence Variant
hepatocyte nuclear factor 4-alpha isoform 9 NP_001274112.1:p.Arg306Cys R (Arg) > C (Cys) Missense Variant
HNF4A transcript variant 2 NM_000457.6:c.991C>A R [CGT] > S [AGT] Coding Sequence Variant
hepatocyte nuclear factor 4-alpha isoform 2 NP_000448.3:p.Arg331Ser R (Arg) > S (Ser) Missense Variant
HNF4A transcript variant 2 NM_000457.6:c.991C>T R [CGT] > C [TGT] Coding Sequence Variant
hepatocyte nuclear factor 4-alpha isoform 2 NP_000448.3:p.Arg331Cys R (Arg) > C (Cys) Missense Variant
HNF4A transcript variant X1 XM_047440135.1:c.991C>A R [CGT] > S [AGT] Coding Sequence Variant
hepatocyte nuclear factor 4-alpha isoform X1 XP_047296091.1:p.Arg331Ser R (Arg) > S (Ser) Missense Variant
HNF4A transcript variant X1 XM_047440135.1:c.991C>T R [CGT] > C [TGT] Coding Sequence Variant
hepatocyte nuclear factor 4-alpha isoform X1 XP_047296091.1:p.Arg331Cys R (Arg) > C (Cys) Missense Variant
HNF4A transcript variant X2 XM_047440136.1:c.991C>A R [CGT] > S [AGT] Coding Sequence Variant
hepatocyte nuclear factor 4-alpha isoform X1 XP_047296092.1:p.Arg331Ser R (Arg) > S (Ser) Missense Variant
HNF4A transcript variant X2 XM_047440136.1:c.991C>T R [CGT] > C [TGT] Coding Sequence Variant
hepatocyte nuclear factor 4-alpha isoform X1 XP_047296092.1:p.Arg331Cys R (Arg) > C (Cys) Missense Variant
HNF4A transcript variant X3 XM_047440137.1:c.991C>A R [CGT] > S [AGT] Coding Sequence Variant
hepatocyte nuclear factor 4-alpha isoform X1 XP_047296093.1:p.Arg331Ser R (Arg) > S (Ser) Missense Variant
HNF4A transcript variant X3 XM_047440137.1:c.991C>T R [CGT] > C [TGT] Coding Sequence Variant
hepatocyte nuclear factor 4-alpha isoform X1 XP_047296093.1:p.Arg331Cys R (Arg) > C (Cys) Missense Variant
HNF4A transcript variant X4 XM_047440138.1:c.991C>A R [CGT] > S [AGT] Coding Sequence Variant
hepatocyte nuclear factor 4-alpha isoform X2 XP_047296094.1:p.Arg331Ser R (Arg) > S (Ser) Missense Variant
HNF4A transcript variant X4 XM_047440138.1:c.991C>T R [CGT] > C [TGT] Coding Sequence Variant
hepatocyte nuclear factor 4-alpha isoform X2 XP_047296094.1:p.Arg331Cys R (Arg) > C (Cys) 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: 577862 )
ClinVar Accession Disease Names Clinical Significance
RCV000711965.1 not provided Uncertain-Significance
Allele: T (allele ID: 45028 )
ClinVar Accession Disease Names Clinical Significance
RCV000030034.3 Maturity-onset diabetes of the young type 1 Likely-Pathogenic
RCV000193933.5 Hyperinsulinemia Likely-Pathogenic
RCV000517103.6 not provided Uncertain-Significance
RCV001249093.3 Maturity onset diabetes mellitus in young Uncertain-Significance
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 C= A T
GRCh38.p14 chr 20 NC_000020.11:g.44424116= NC_000020.11:g.44424116C>A NC_000020.11:g.44424116C>T
GRCh37.p13 chr 20 NC_000020.10:g.43052756= NC_000020.10:g.43052756C>A NC_000020.10:g.43052756C>T
HNF4A RefSeqGene (LRG_483) NG_009818.1:g.73316= NG_009818.1:g.73316C>A NG_009818.1:g.73316C>T
HNF4A transcript variant 2 NM_000457.4:c.991= NM_000457.4:c.991C>A NM_000457.4:c.991C>T
HNF4A transcript variant 2 NM_000457.6:c.991= NM_000457.6:c.991C>A NM_000457.6:c.991C>T
HNF4A transcript variant 2 NM_000457.5:c.991= NM_000457.5:c.991C>A NM_000457.5:c.991C>T
HNF4A transcript variant 5 NM_175914.4:c.925= NM_175914.4:c.925C>A NM_175914.4:c.925C>T
HNF4A transcript variant 5 NM_175914.5:c.925= NM_175914.5:c.925C>A NM_175914.5:c.925C>T
HNF4A transcript variant 1 NM_178849.3:c.991= NM_178849.3:c.991C>A NM_178849.3:c.991C>T
HNF4A transcript variant 1 NM_178849.2:c.991= NM_178849.2:c.991C>A NM_178849.2:c.991C>T
HNF4A transcript variant 4 NM_001030003.3:c.925= NM_001030003.3:c.925C>A NM_001030003.3:c.925C>T
HNF4A transcript variant 4 NM_001030003.2:c.925= NM_001030003.2:c.925C>A NM_001030003.2:c.925C>T
HNF4A transcript variant 3 NM_178850.3:c.991= NM_178850.3:c.991C>A NM_178850.3:c.991C>T
HNF4A transcript variant 3 NM_178850.2:c.991= NM_178850.2:c.991C>A NM_178850.2:c.991C>T
HNF4A transcript variant 6 NM_001030004.3:c.925= NM_001030004.3:c.925C>A NM_001030004.3:c.925C>T
HNF4A transcript variant 6 NM_001030004.2:c.925= NM_001030004.2:c.925C>A NM_001030004.2:c.925C>T
HNF4A transcript variant 8 NM_001287182.2:c.916= NM_001287182.2:c.916C>A NM_001287182.2:c.916C>T
HNF4A transcript variant 8 NM_001287182.1:c.916= NM_001287182.1:c.916C>A NM_001287182.1:c.916C>T
HNF4A transcript variant 7 NM_001258355.2:c.970= NM_001258355.2:c.970C>A NM_001258355.2:c.970C>T
HNF4A transcript variant 7 NM_001258355.1:c.970= NM_001258355.1:c.970C>A NM_001258355.1:c.970C>T
HNF4A transcript variant 10 NM_001287184.2:c.916= NM_001287184.2:c.916C>A NM_001287184.2:c.916C>T
HNF4A transcript variant 10 NM_001287184.1:c.916= NM_001287184.1:c.916C>A NM_001287184.1:c.916C>T
HNF4A transcript variant 9 NM_001287183.1:c.916= NM_001287183.1:c.916C>A NM_001287183.1:c.916C>T
HNF4A transcript variant 9 NM_001287183.2:c.916= NM_001287183.2:c.916C>A NM_001287183.2:c.916C>T
HNF4A transcript variant X4 XM_047440138.1:c.991= XM_047440138.1:c.991C>A XM_047440138.1:c.991C>T
HNF4A transcript variant X1 XM_047440135.1:c.991= XM_047440135.1:c.991C>A XM_047440135.1:c.991C>T
HNF4A transcript variant X2 XM_047440136.1:c.991= XM_047440136.1:c.991C>A XM_047440136.1:c.991C>T
HNF4A transcript variant X3 XM_047440137.1:c.991= XM_047440137.1:c.991C>A XM_047440137.1:c.991C>T
hepatocyte nuclear factor 4-alpha isoform 2 NP_000448.3:p.Arg331= NP_000448.3:p.Arg331Ser NP_000448.3:p.Arg331Cys
hepatocyte nuclear factor 4-alpha isoform 5 NP_787110.2:p.Arg309= NP_787110.2:p.Arg309Ser NP_787110.2:p.Arg309Cys
hepatocyte nuclear factor 4-alpha isoform 1 NP_849180.1:p.Arg331= NP_849180.1:p.Arg331Ser NP_849180.1:p.Arg331Cys
hepatocyte nuclear factor 4-alpha isoform 4 NP_001025174.1:p.Arg309= NP_001025174.1:p.Arg309Ser NP_001025174.1:p.Arg309Cys
hepatocyte nuclear factor 4-alpha isoform 3 NP_849181.1:p.Arg331= NP_849181.1:p.Arg331Ser NP_849181.1:p.Arg331Cys
hepatocyte nuclear factor 4-alpha isoform 6 NP_001025175.1:p.Arg309= NP_001025175.1:p.Arg309Ser NP_001025175.1:p.Arg309Cys
hepatocyte nuclear factor 4-alpha isoform 8 NP_001274111.1:p.Arg306= NP_001274111.1:p.Arg306Ser NP_001274111.1:p.Arg306Cys
hepatocyte nuclear factor 4-alpha isoform 7 NP_001245284.1:p.Arg324= NP_001245284.1:p.Arg324Ser NP_001245284.1:p.Arg324Cys
hepatocyte nuclear factor 4-alpha isoform 10 NP_001274113.1:p.Arg306= NP_001274113.1:p.Arg306Ser NP_001274113.1:p.Arg306Cys
hepatocyte nuclear factor 4-alpha isoform 9 NP_001274112.1:p.Arg306= NP_001274112.1:p.Arg306Ser NP_001274112.1:p.Arg306Cys
hepatocyte nuclear factor 4-alpha isoform X2 XP_047296094.1:p.Arg331= XP_047296094.1:p.Arg331Ser XP_047296094.1:p.Arg331Cys
hepatocyte nuclear factor 4-alpha isoform X1 XP_047296091.1:p.Arg331= XP_047296091.1:p.Arg331Ser XP_047296091.1:p.Arg331Cys
hepatocyte nuclear factor 4-alpha isoform X1 XP_047296092.1:p.Arg331= XP_047296092.1:p.Arg331Ser XP_047296092.1:p.Arg331Cys
hepatocyte nuclear factor 4-alpha isoform X1 XP_047296093.1:p.Arg331= XP_047296093.1:p.Arg331Ser XP_047296093.1:p.Arg331Cys
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#.

12 SubSNP, 6 Frequency, 5 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CORRELAGEN ss472343411 Nov 22, 2011 (136)
2 EVA_EXAC ss1694005553 Apr 01, 2015 (144)
3 ILLUMINA ss1959917972 Feb 12, 2016 (147)
4 GNOMAD ss2744621367 Nov 08, 2017 (151)
5 ILLUMINA ss3022122289 Nov 08, 2017 (151)
6 ILLUMINA ss3652577657 Oct 12, 2018 (152)
7 ILLUMINA ss3725918160 Jul 13, 2019 (153)
8 PAGE_CC ss3772050194 Jul 13, 2019 (153)
9 GNOMAD ss4353989055 Apr 27, 2021 (155)
10 TOPMED ss5089805667 Apr 27, 2021 (155)
11 EVA ss5847921910 Oct 16, 2022 (156)
12 EVA ss5979617180 Oct 16, 2022 (156)
13 ExAC NC_000020.10 - 43052756 Oct 12, 2018 (152)
14 gnomAD - Genomes NC_000020.11 - 44424116 Apr 27, 2021 (155)
15 gnomAD - Exomes NC_000020.10 - 43052756 Jul 13, 2019 (153)
16 The PAGE Study NC_000020.11 - 44424116 Jul 13, 2019 (153)
17 TopMed NC_000020.11 - 44424116 Apr 27, 2021 (155)
18 ALFA NC_000020.11 - 44424116 Apr 27, 2021 (155)
19 ClinVar RCV000030034.3 Oct 16, 2022 (156)
20 ClinVar RCV000193933.5 Oct 16, 2022 (156)
21 ClinVar RCV000517103.6 Oct 16, 2022 (156)
22 ClinVar RCV000711965.1 Jul 13, 2019 (153)
23 ClinVar RCV001249093.3 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
RCV000711965.1 NC_000020.11:44424115:C:A NC_000020.11:44424115:C:A (self)
5561005, 13943242, ss1694005553, ss1959917972, ss2744621367, ss3022122289, ss3652577657, ss5847921910, ss5979617180 NC_000020.10:43052755:C:T NC_000020.11:44424115:C:T (self)
RCV000030034.3, RCV000193933.5, RCV000517103.6, RCV001249093.3, 552841583, 1271663, 364914612, 10380579853, ss472343411, ss3725918160, ss3772050194, ss4353989055, ss5089805667 NC_000020.11:44424115:C:T NC_000020.11:44424115:C:T (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 rs193922479
PMID Title Author Year Journal
16917892 Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young. Ellard S et al. 2006 Human mutation
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
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