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rs121917718

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917718(C;T)
Make rs121917718(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position127613804
GenePAX4
is asnp
is mentioned by
dbSNPrs121917718
ebirs121917718
HLIrs121917718
Exacrs121917718
Varsomers121917718
Maprs121917718
PheGenIrs121917718
hapmaprs121917718
1000 genomesrs121917718
hgdprs121917718
ensemblrs121917718
gopubmedrs121917718
geneviewrs121917718
scholarrs121917718
googlers121917718
pharmgkbrs121917718
gwascentralrs121917718
openSNPrs121917718
23andMers121917718
23andMe allrs121917718
SNP Nexus

SNPshotrs121917718
SNPdbers121917718
MSV3drs121917718
GWAS Ctlgrs121917718
Max Magnitude0
OMIM167413
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121917718(T;T)
Alt rs121917718(T;T)
Reference rs121917718(C;C)
Significance Pathogenic
Disease Maturity-onset diabetes of the young
Variation info
Gene PAX4
CLNDBN Maturity-onset diabetes of the young, type 9
Reversed 1
HGVS NC_000007.13:g.127253858G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014803.25,