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rs104894014

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894014(C;T)
Make rs104894014(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position44145167
GeneGCK
is asnp
is mentioned by
dbSNPrs104894014
dbSNP (classic)rs104894014
ClinGenrs104894014
ebirs104894014
HLIrs104894014
Exacrs104894014
Gnomadrs104894014
Varsomers104894014
LitVarrs104894014
Maprs104894014
PheGenIrs104894014
Biobankrs104894014
1000 genomesrs104894014
hgdprs104894014
ensemblrs104894014
geneviewrs104894014
scholarrs104894014
googlers104894014
pharmgkbrs104894014
gwascentralrs104894014
openSNPrs104894014
23andMers104894014
SNPshotrs104894014
SNPdbers104894014
MSV3drs104894014
GWAS Ctlgrs104894014
Max Magnitude0
OMIM138079
Desc
Variant0012
Relatedalso
ClinVar
Risk rs104894014(T;T)
Alt rs104894014(T;T)
Reference Rs104894014(C;C)
Significance Pathogenic
Disease Hyperinsulinemic hypoglycemia familial 3
Variation info
Gene GCK
CLNDBN Hyperinsulinemic hypoglycemia familial 3
Reversed 1
HGVS NC_000007.13:g.44184766G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017525.27,