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rs104894012

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894012(A;A)
Make rs104894012(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position44145171
GeneGCK
is asnp
is mentioned by
dbSNPrs104894012
ebirs104894012
HLIrs104894012
Exacrs104894012
Varsomers104894012
Maprs104894012
PheGenIrs104894012
hapmaprs104894012
1000 genomesrs104894012
hgdprs104894012
ensemblrs104894012
gopubmedrs104894012
geneviewrs104894012
scholarrs104894012
googlers104894012
pharmgkbrs104894012
gwascentralrs104894012
openSNPrs104894012
23andMers104894012
23andMe allrs104894012
SNP Nexus

SNPshotrs104894012
SNPdbers104894012
MSV3drs104894012
GWAS Ctlgrs104894012
Max Magnitude0
OMIM138079
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894012(A;A)
Alt rs104894012(A;A)
Reference rs104894012(G;G)
Significance Pathogenic
Disease Hyperinsulinemic hypoglycemia familial 3
Variation info
Gene GCK
CLNDBN Hyperinsulinemic hypoglycemia familial 3
Reversed 1
HGVS NC_000007.13:g.44184770C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017520.27,