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rs786204749

From SNPedia

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


Make rs786204749(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position52058377
GenePKHD1
is asnp
is mentioned by
dbSNPrs786204749
dbSNP (old)rs786204749
ClinGenrs786204749
ebirs786204749
HLIrs786204749
Exacrs786204749
Gnomadrs786204749
Varsomers786204749
Maprs786204749
PheGenIrs786204749
Biobankrs786204749
1000 genomesrs786204749
hgdprs786204749
ensemblrs786204749
gopubmedrs786204749
geneviewrs786204749
scholarrs786204749
googlers786204749
pharmgkbrs786204749
gwascentralrs786204749
openSNPrs786204749
23andMers786204749
23andMe allrs786204749
SNP Nexus

SNPshotrs786204749
SNPdbers786204749
MSV3drs786204749
GWAS Ctlgrs786204749
Max Magnitude3
ClinVar
Risk rs786204749(A;A)
Alt rs786204749(A;A)
Reference Rs786204749(C;C)
Significance Probable-Pathogenic
Disease Autosomal recessive polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Autosomal recessive polycystic kidney disease
Reversed 1
HGVS NC_000006.11:g.51923175G>T
CLNSRC
CLNACC RCV000169599.1,