Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894005

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 2 associated with MODY2; maturity onset of diabetes in the young (type 2)
Make rs104894005(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position44147678
GeneGCK, LOC105375258
is asnp
is mentioned by
dbSNPrs104894005
dbSNP (classic)rs104894005
ClinGenrs104894005
ebirs104894005
HLIrs104894005
Exacrs104894005
Gnomadrs104894005
Varsomers104894005
LitVarrs104894005
Maprs104894005
PheGenIrs104894005
Biobankrs104894005
1000 genomesrs104894005
hgdprs104894005
ensemblrs104894005
geneviewrs104894005
scholarrs104894005
googlers104894005
pharmgkbrs104894005
gwascentralrs104894005
openSNPrs104894005
23andMers104894005
SNPshotrs104894005
SNPdbers104894005
MSV3drs104894005
GWAS Ctlgrs104894005
GMAF0.0004591
Max Magnitude2
OMIM138079
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894005(A;A) rs104894005(C;C) rs104894005(T;T)
Alt rs104894005(A;A) rs104894005(C;C) rs104894005(T;T)
Reference Rs104894005(G;G)
Significance Pathogenic
Disease Maturity-onset diabetes of the young not specified
Variation info
Gene GCK
CLNDBN Maturity-onset diabetes of the young, type 2 not specified
Reversed 1
HGVS NC_000007.13:g.44187277C>A; NC_000007.13:g.44187277C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017512.28, RCV000194319.1,