rs121908261
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121908261(C;T) |
Make rs121908261(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2160809 |
Gene | INS, INS-IGF2 |
is a | snp |
is | mentioned by |
dbSNP | rs121908261 |
dbSNP (classic) | rs121908261 |
ClinGen | rs121908261 |
ebi | rs121908261 |
HLI | rs121908261 |
Exac | rs121908261 |
Gnomad | rs121908261 |
Varsome | rs121908261 |
LitVar | rs121908261 |
Map | rs121908261 |
PheGenI | rs121908261 |
Biobank | rs121908261 |
1000 genomes | rs121908261 |
hgdp | rs121908261 |
ensembl | rs121908261 |
geneview | rs121908261 |
scholar | rs121908261 |
rs121908261 | |
pharmgkb | rs121908261 |
gwascentral | rs121908261 |
openSNP | rs121908261 |
23andMe | rs121908261 |
SNPshot | rs121908261 |
SNPdbe | rs121908261 |
MSV3d | rs121908261 |
GWAS Ctlg | rs121908261 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908261(T;T) |
Alt | rs121908261(T;T) |
Reference | Rs121908261(C;C) |
Significance | Pathogenic |
Disease | Diabetes mellitus |
Variation | info |
Gene | INS INS-IGF2 |
CLNDBN | Diabetes mellitus, insulin-dependent, 2 |
Reversed | 1 |
HGVS | NC_000011.9:g.2182039G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
CLNACC | RCV000014324.28, |
[PMID 18192540] Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.