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rs121918043

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 5 Polycystic kidney disease, autosomal dominant form (predicted)
Make rs121918043(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position88046854
GenePKD2
is asnp
is mentioned by
dbSNPrs121918043
dbSNP (classic)rs121918043
ClinGenrs121918043
ebirs121918043
HLIrs121918043
Exacrs121918043
Gnomadrs121918043
Varsomers121918043
LitVarrs121918043
Maprs121918043
PheGenIrs121918043
Biobankrs121918043
1000 genomesrs121918043
hgdprs121918043
ensemblrs121918043
geneviewrs121918043
scholarrs121918043
googlers121918043
pharmgkbrs121918043
gwascentralrs121918043
openSNPrs121918043
23andMers121918043
SNPshotrs121918043
SNPdbers121918043
MSV3drs121918043
GWAS Ctlgrs121918043
Max Magnitude5

aka c.1532A>T (p.Asp511Val)

23andMe name: i5002463

OMIM173910
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121918043(T;T)
Alt rs121918043(T;T)
Reference Rs121918043(A;A)
Significance Pathogenic
Disease Polycystic kidney disease 2
Variation info
Gene PKD2
CLNDBN Polycystic kidney disease 2
Reversed 0
HGVS NC_000004.11:g.88968006A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014479.27,