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rs797044713

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common/normal
(-;C) 3 Carrier of an autosomal recessive polycystic kidney disease mutation
Make rs797044713(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position52028187
GenePKHD1
is asnp
is mentioned by
dbSNPrs797044713
ebirs797044713
HLIrs797044713
Exacrs797044713
Varsomers797044713
Maprs797044713
PheGenIrs797044713
hapmaprs797044713
1000 genomesrs797044713
hgdprs797044713
ensemblrs797044713
gopubmedrs797044713
geneviewrs797044713
scholarrs797044713
googlers797044713
pharmgkbrs797044713
gwascentralrs797044713
openSNPrs797044713
23andMers797044713
23andMe allrs797044713
SNP Nexus

SNPshotrs797044713
SNPdbers797044713
MSV3drs797044713
GWAS Ctlgrs797044713
Max Magnitude3
ClinVar
Risk rs797044713(C;C)
Alt rs797044713(C;C)
Reference rs797044713(;)
Significance Pathogenic
Disease Polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Polycystic kidney disease, infantile type
Reversed 1
HGVS NC_000006.11:g.51892986dupG
CLNSRC
CLNACC RCV000177479.1,