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rs121918040

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 Polycystic kidney disease, autosomal dominant form (predicted)
Make rs121918040(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position88065479
GenePKD2
is asnp
is mentioned by
dbSNPrs121918040
dbSNP (classic)rs121918040
ClinGenrs121918040
ebirs121918040
HLIrs121918040
Exacrs121918040
Gnomadrs121918040
Varsomers121918040
LitVarrs121918040
Maprs121918040
PheGenIrs121918040
Biobankrs121918040
1000 genomesrs121918040
hgdprs121918040
ensemblrs121918040
geneviewrs121918040
scholarrs121918040
googlers121918040
pharmgkbrs121918040
gwascentralrs121918040
openSNPrs121918040
23andMers121918040
SNPshotrs121918040
SNPdbers121918040
MSV3drs121918040
GWAS Ctlgrs121918040
Max Magnitude5
OMIM173910
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918040(T;T)
Alt rs121918040(T;T)
Reference Rs121918040(C;C)
Significance Pathogenic
Disease Polycystic kidney disease 2
Variation info
Gene PKD2
CLNDBN Polycystic kidney disease 2
Reversed 0
HGVS NC_000004.11:g.88986631C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014473.19,