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rs786204696

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 rs786204696(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position52054122
GenePKHD1
is asnp
is mentioned by
dbSNPrs786204696
dbSNP (old)rs786204696
ClinGenrs786204696
ebirs786204696
HLIrs786204696
Exacrs786204696
Gnomadrs786204696
Varsomers786204696
Maprs786204696
PheGenIrs786204696
Biobankrs786204696
1000 genomesrs786204696
hgdprs786204696
ensemblrs786204696
gopubmedrs786204696
geneviewrs786204696
scholarrs786204696
googlers786204696
pharmgkbrs786204696
gwascentralrs786204696
openSNPrs786204696
23andMers786204696
23andMe allrs786204696
SNP Nexus

SNPshotrs786204696
SNPdbers786204696
MSV3drs786204696
GWAS Ctlgrs786204696
Max Magnitude3
ClinVar
Risk rs786204696(A;A)
Alt rs786204696(A;A)
Reference Rs786204696(T;T)
Significance Pathogenic
Disease Autosomal recessive polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Autosomal recessive polycystic kidney disease
Reversed 1
HGVS NC_000006.11:g.51918920A>T
CLNSRC
CLNACC RCV000169507.1,