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rs794727819

From SNPedia

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


Make rs794727819(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position51659462
GeneLOC105375087, PKHD1
is asnp
is mentioned by
dbSNPrs794727819
ebirs794727819
HLIrs794727819
Exacrs794727819
Varsomers794727819
Maprs794727819
PheGenIrs794727819
hapmaprs794727819
1000 genomesrs794727819
hgdprs794727819
ensemblrs794727819
gopubmedrs794727819
geneviewrs794727819
scholarrs794727819
googlers794727819
pharmgkbrs794727819
gwascentralrs794727819
openSNPrs794727819
23andMers794727819
23andMe allrs794727819
SNP Nexus

SNPshotrs794727819
SNPdbers794727819
MSV3drs794727819
GWAS Ctlgrs794727819
Max Magnitude3
ClinVar
Risk rs794727819(A;A)
Alt rs794727819(A;A)
Reference rs794727819(T;T)
Significance Probable-Pathogenic
Disease Polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Polycystic kidney disease, infantile type
Reversed 1
HGVS NC_000006.11:g.51524260A>T
CLNSRC
CLNACC RCV000179598.1,