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rs786204241

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 rs786204241(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position51791374
GenePKHD1
is asnp
is mentioned by
dbSNPrs786204241
ebirs786204241
HLIrs786204241
Exacrs786204241
Varsomers786204241
Maprs786204241
PheGenIrs786204241
hapmaprs786204241
1000 genomesrs786204241
hgdprs786204241
ensemblrs786204241
gopubmedrs786204241
geneviewrs786204241
scholarrs786204241
googlers786204241
pharmgkbrs786204241
gwascentralrs786204241
openSNPrs786204241
23andMers786204241
23andMe allrs786204241
SNP Nexus

SNPshotrs786204241
SNPdbers786204241
MSV3drs786204241
GWAS Ctlgrs786204241
Max Magnitude3
ClinVar
Risk rs786204241(A;A)
Alt rs786204241(A;A)
Reference rs786204241(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.51656172C>T
CLNSRC
CLNACC RCV000168405.2,