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rs794727572

From SNPedia

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


Make rs794727572(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position52022855
GenePKHD1
is asnp
is mentioned by
dbSNPrs794727572
ebirs794727572
HLIrs794727572
Exacrs794727572
Varsomers794727572
Maprs794727572
PheGenIrs794727572
hapmaprs794727572
1000 genomesrs794727572
hgdprs794727572
ensemblrs794727572
gopubmedrs794727572
geneviewrs794727572
scholarrs794727572
googlers794727572
pharmgkbrs794727572
gwascentralrs794727572
openSNPrs794727572
23andMers794727572
23andMe allrs794727572
SNP Nexus

SNPshotrs794727572
SNPdbers794727572
MSV3drs794727572
GWAS Ctlgrs794727572
Max Magnitude3
ClinVar
Risk rs794727572(;)
Alt rs794727572(;)
Reference rs794727572(AG;AG)
Significance Pathogenic
Disease Polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Polycystic kidney disease, infantile type
Reversed 1
HGVS NC_000006.11:g.51887653_51887654delCT
CLNSRC
CLNACC RCV000177755.1,