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rs794727037

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 Carrier of an autosomal recessive polycystic kidney disease mutation
Make rs794727037(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position52069470
GeneLOC105375086, PKHD1
is asnp
is mentioned by
dbSNPrs794727037
ebirs794727037
HLIrs794727037
Exacrs794727037
Varsomers794727037
Maprs794727037
PheGenIrs794727037
hapmaprs794727037
1000 genomesrs794727037
hgdprs794727037
ensemblrs794727037
gopubmedrs794727037
geneviewrs794727037
scholarrs794727037
googlers794727037
pharmgkbrs794727037
gwascentralrs794727037
openSNPrs794727037
23andMers794727037
23andMe allrs794727037
SNP Nexus

SNPshotrs794727037
SNPdbers794727037
MSV3drs794727037
GWAS Ctlgrs794727037
Max Magnitude3
ClinVar
Risk rs794727037(G;G)
Alt rs794727037(G;G)
Reference rs794727037(C;C)
Significance Pathogenic
Disease Polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Polycystic kidney disease, infantile type
Reversed 1
HGVS NC_000006.11:g.51934268G>C
CLNSRC
CLNACC RCV000174176.1,