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rs398124485

From SNPedia

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


Make rs398124485(C;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position52076334
GenePKHD1
is asnp
is mentioned by
dbSNPrs398124485
ebirs398124485
HLIrs398124485
Exacrs398124485
Varsomers398124485
Maprs398124485
PheGenIrs398124485
hapmaprs398124485
1000 genomesrs398124485
hgdprs398124485
ensemblrs398124485
gopubmedrs398124485
geneviewrs398124485
scholarrs398124485
googlers398124485
pharmgkbrs398124485
gwascentralrs398124485
openSNPrs398124485
23andMers398124485
23andMe allrs398124485
SNP Nexus

SNPshotrs398124485
SNPdbers398124485
MSV3drs398124485
GWAS Ctlgrs398124485
Max Magnitude3
ClinVar
Risk rs398124485(C;C)
Alt rs398124485(C;C)
Reference rs398124485(G;G)
Significance Pathogenic
Disease not provided Polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN not provided Polycystic kidney disease, infantile type
Reversed 1
HGVS NC_000006.11:g.51941132C>G
CLNSRC ClinVar
CLNACC RCV000082550.3, RCV000179552.1,