rs1169305
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
(C;T) | 2 | associated with MODY3; maturity onset of diabetes in the young (type 3) |
(T;T) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 120999579 |
Gene | HNF1A |
is a | snp |
is | mentioned by |
dbSNP | rs1169305 |
dbSNP (classic) | rs1169305 |
ClinGen | rs1169305 |
ebi | rs1169305 |
HLI | rs1169305 |
Exac | rs1169305 |
Gnomad | rs1169305 |
Varsome | rs1169305 |
LitVar | rs1169305 |
Map | rs1169305 |
PheGenI | rs1169305 |
Biobank | rs1169305 |
1000 genomes | rs1169305 |
hgdp | rs1169305 |
ensembl | rs1169305 |
geneview | rs1169305 |
scholar | rs1169305 |
rs1169305 | |
pharmgkb | rs1169305 |
gwascentral | rs1169305 |
openSNP | rs1169305 |
23andMe | rs1169305 |
SNPshot | rs1169305 |
SNPdbe | rs1169305 |
MSV3d | rs1169305 |
GWAS Ctlg | rs1169305 |
GMAF | 0.009183 |
Max Magnitude | 2 |
now considered benign in ClinVar
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | Rs1169305(C;C) |
Alt | Rs1169305(C;C) |
Reference | Rs1169305(T;T) |
Significance | Non-pathogenic |
Disease | Maturity-onset diabetes of the young not specified |
Variation | info |
Gene | HNF1A |
CLNDBN | Maturity-onset diabetes of the young, type 3 not specified |
Reversed | 1 |
HGVS | NC_000012.11:g.121437382A\x3d; NC_000012.11:g.121437382A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000016077.25, RCV000438436.1, RCV000030490.2, RCV000121200.1, |