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rs786204707

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 rs786204707(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position52043636
GenePKHD1
is asnp
is mentioned by
dbSNPrs786204707
dbSNP (old)rs786204707
ClinGenrs786204707
ebirs786204707
HLIrs786204707
Exacrs786204707
Varsomers786204707
Maprs786204707
PheGenIrs786204707
Biobankrs786204707
1000 genomesrs786204707
hgdprs786204707
ensemblrs786204707
gopubmedrs786204707
geneviewrs786204707
scholarrs786204707
googlers786204707
pharmgkbrs786204707
gwascentralrs786204707
openSNPrs786204707
23andMers786204707
23andMe allrs786204707
SNP Nexus

SNPshotrs786204707
SNPdbers786204707
MSV3drs786204707
GWAS Ctlgrs786204707
Max Magnitude3
ClinVar
Risk rs786204707(A;A)
Alt rs786204707(A;A)
Reference Rs786204707(G;G)
Significance Pathogenic
Disease Autosomal recessive polycystic kidney disease Polycystic kidney dysplasia Renal cyst Ventricular hypertrophy
Variation info
Gene PKHD1
CLNDBN Autosomal recessive polycystic kidney disease Polycystic kidney dysplasia Renal cyst Ventricular hypertrophy
Reversed 1
HGVS NC_000006.11:g.51908434C>T
CLNSRC
CLNACC RCV000169522.1, RCV000415273.1,