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rs794727680

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 Carrier of an autosomal recessive polycystic kidney disease mutation
(G;G) 0 common in clinvar


Make rs794727680(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position51885888
GenePKHD1
is asnp
is mentioned by
dbSNPrs794727680
ebirs794727680
HLIrs794727680
Exacrs794727680
Varsomers794727680
Maprs794727680
PheGenIrs794727680
hapmaprs794727680
1000 genomesrs794727680
hgdprs794727680
ensemblrs794727680
gopubmedrs794727680
geneviewrs794727680
scholarrs794727680
googlers794727680
pharmgkbrs794727680
gwascentralrs794727680
openSNPrs794727680
23andMers794727680
23andMe allrs794727680
SNP Nexus

SNPshotrs794727680
SNPdbers794727680
MSV3drs794727680
GWAS Ctlgrs794727680
Max Magnitude3
ClinVar
Risk rs794727680(A;A)
Alt rs794727680(A;A)
Reference rs794727680(G;G)
Significance Pathogenic
Disease Polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Polycystic kidney disease, infantile type
Reversed 1
HGVS NC_000006.11:g.51750686C>T
CLNSRC
CLNACC RCV000178588.1,