rs104894008
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 2 | associated with MODY2; maturity onset of diabetes in the young (type 2) |
(G;G) | 0 | common in clinvar |
Make rs104894008(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 44147732 |
Gene | GCK, LOC105375258 |
is a | snp |
is | mentioned by |
dbSNP | rs104894008 |
dbSNP (classic) | rs104894008 |
ClinGen | rs104894008 |
ebi | rs104894008 |
HLI | rs104894008 |
Exac | rs104894008 |
Gnomad | rs104894008 |
Varsome | rs104894008 |
LitVar | rs104894008 |
Map | rs104894008 |
PheGenI | rs104894008 |
Biobank | rs104894008 |
1000 genomes | rs104894008 |
hgdp | rs104894008 |
ensembl | rs104894008 |
geneview | rs104894008 |
scholar | rs104894008 |
rs104894008 | |
pharmgkb | rs104894008 |
gwascentral | rs104894008 |
openSNP | rs104894008 |
23andMe | rs104894008 |
SNPshot | rs104894008 |
SNPdbe | rs104894008 |
MSV3d | rs104894008 |
GWAS Ctlg | rs104894008 |
Max Magnitude | 2 |
ClinVar | |
---|---|
Risk | rs104894008(A;A) |
Alt | rs104894008(A;A) |
Reference | Rs104894008(G;G) |
Significance | Pathogenic |
Disease | Maturity-onset diabetes of the young not provided |
Variation | info |
Gene | GCK |
CLNDBN | Maturity-onset diabetes of the young, type 2 not provided |
Reversed | 1 |
HGVS | NC_000007.13:g.44187331C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017515.28, RCV000426797.1, |