rs193921400
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs193921400(C;C) |
Make rs193921400(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 44147755 |
Gene | GCK, LOC105375258 |
is a | snp |
is | mentioned by |
dbSNP | rs193921400 |
dbSNP (classic) | rs193921400 |
ClinGen | rs193921400 |
ebi | rs193921400 |
HLI | rs193921400 |
Exac | rs193921400 |
Gnomad | rs193921400 |
Varsome | rs193921400 |
LitVar | rs193921400 |
Map | rs193921400 |
PheGenI | rs193921400 |
Biobank | rs193921400 |
1000 genomes | rs193921400 |
hgdp | rs193921400 |
ensembl | rs193921400 |
geneview | rs193921400 |
scholar | rs193921400 |
rs193921400 | |
pharmgkb | rs193921400 |
gwascentral | rs193921400 |
openSNP | rs193921400 |
23andMe | rs193921400 |
SNPshot | rs193921400 |
SNPdbe | rs193921400 |
MSV3d | rs193921400 |
GWAS Ctlg | rs193921400 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193921400(C;C) rs193921400(G;G) |
Alt | rs193921400(C;C) rs193921400(G;G) |
Reference | Rs193921400(T;T) |
Significance | Probable-Pathogenic |
Disease | Maturity-onset diabetes of the young |
Variation | info |
Gene | GCK |
CLNDBN | Maturity-onset diabetes of the young, type 2 |
Reversed | 1 |
HGVS | NC_000007.13:g.44187354A>C; NC_000007.13:g.44187354A>G |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000029916.1, RCV000029915.1, |