rs121913148
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121913148(A;A) |
Make rs121913148(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 7125482 |
Gene | INSR |
is a | snp |
is | mentioned by |
dbSNP | rs121913148 |
dbSNP (classic) | rs121913148 |
ClinGen | rs121913148 |
ebi | rs121913148 |
HLI | rs121913148 |
Exac | rs121913148 |
Gnomad | rs121913148 |
Varsome | rs121913148 |
LitVar | rs121913148 |
Map | rs121913148 |
PheGenI | rs121913148 |
Biobank | rs121913148 |
1000 genomes | rs121913148 |
hgdp | rs121913148 |
ensembl | rs121913148 |
geneview | rs121913148 |
scholar | rs121913148 |
rs121913148 | |
pharmgkb | rs121913148 |
gwascentral | rs121913148 |
openSNP | rs121913148 |
23andMe | rs121913148 |
SNPshot | rs121913148 |
SNPdbe | rs121913148 |
MSV3d | rs121913148 |
GWAS Ctlg | rs121913148 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913148(A;A) |
Alt | rs121913148(A;A) |
Reference | Rs121913148(G;G) |
Significance | Pathogenic |
Disease | Insulin-resistant diabetes mellitus AND acanthosis nigricans |
Variation | info |
Gene | INSR |
CLNDBN | Insulin-resistant diabetes mellitus AND acanthosis nigricans |
Reversed | 1 |
HGVS | NC_000019.9:g.7125493C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015812.25, |