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rs863224528

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;T) 3 Carrier of an autosomal recessive polycystic kidney disease mutation
Make rs863224528(-;-)
Make rs863224528(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position51868035
GenePKHD1
is asnp
is mentioned by
dbSNPrs863224528
ebirs863224528
HLIrs863224528
Exacrs863224528
Varsomers863224528
Maprs863224528
PheGenIrs863224528
hapmaprs863224528
1000 genomesrs863224528
hgdprs863224528
ensemblrs863224528
gopubmedrs863224528
geneviewrs863224528
scholarrs863224528
googlers863224528
pharmgkbrs863224528
gwascentralrs863224528
openSNPrs863224528
23andMers863224528
23andMe allrs863224528
SNP Nexus

SNPshotrs863224528
SNPdbers863224528
MSV3drs863224528
GWAS Ctlgrs863224528
Max Magnitude3
ClinVar
Risk rs863224528(T;T)
Alt rs863224528(T;T)
Reference rs863224528(;)
Significance Pathogenic
Disease Polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Polycystic kidney disease, infantile type
Reversed 1
HGVS NC_000006.11:g.51732834dupA
CLNSRC
CLNACC RCV000200756.1,