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rs200001068

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 Polycystic kidney disease, autosomal dominant form (predicted)
Make rs200001068(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position88038323
GenePKD2
is asnp
is mentioned by
dbSNPrs200001068
dbSNP (classic)rs200001068
ClinGenrs200001068
ebirs200001068
HLIrs200001068
Exacrs200001068
Gnomadrs200001068
Varsomers200001068
LitVarrs200001068
Maprs200001068
PheGenIrs200001068
Biobankrs200001068
1000 genomesrs200001068
hgdprs200001068
ensemblrs200001068
geneviewrs200001068
scholarrs200001068
googlers200001068
pharmgkbrs200001068
gwascentralrs200001068
openSNPrs200001068
23andMers200001068
23andMe allrs200001068
SNPshotrs200001068
SNPdbers200001068
MSV3drs200001068
GWAS Ctlgrs200001068
Max Magnitude5

aka c.916C>T (p.Arg306Ter)

23andMe name: i5047394

ClinVar
Risk rs200001068(A;A) rs200001068(T;T)
Alt rs200001068(A;A) rs200001068(T;T)
Reference Rs200001068(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.88959475C>T
CLNSRC
CLNACC RCV000449565.1,