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rs398124475

From SNPedia

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


Make rs398124475(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position51744510
GenePKHD1
is asnp
is mentioned by
dbSNPrs398124475
ebirs398124475
HLIrs398124475
Exacrs398124475
Varsomers398124475
Maprs398124475
PheGenIrs398124475
hapmaprs398124475
1000 genomesrs398124475
hgdprs398124475
ensemblrs398124475
gopubmedrs398124475
geneviewrs398124475
scholarrs398124475
googlers398124475
pharmgkbrs398124475
gwascentralrs398124475
openSNPrs398124475
23andMers398124475
23andMe allrs398124475
SNP Nexus

SNPshotrs398124475
SNPdbers398124475
MSV3drs398124475
GWAS Ctlgrs398124475
Max Magnitude3
ClinVar
Risk rs398124475(C,G;C,G)
Alt rs398124475(C,G;C,G)
Reference rs398124475(T;T)
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.51609308A>C
CLNSRC HGMD
CLNACC RCV000082514.3, RCV000179585.1,