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rs398124496

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 rs398124496(A;A)
ReferenceGRCh38 38.1/141
Chromosome6
Position51791268
GenePKHD1
is asnp
is mentioned by
dbSNPrs398124496
ebirs398124496
HLIrs398124496
Exacrs398124496
Varsomers398124496
Maprs398124496
PheGenIrs398124496
hapmaprs398124496
1000 genomesrs398124496
hgdprs398124496
ensemblrs398124496
gopubmedrs398124496
geneviewrs398124496
scholarrs398124496
googlers398124496
pharmgkbrs398124496
gwascentralrs398124496
openSNPrs398124496
23andMers398124496
23andMe allrs398124496
SNP Nexus

SNPshotrs398124496
SNPdbers398124496
MSV3drs398124496
GWAS Ctlgrs398124496
Max Magnitude3
ClinVar
Risk rs398124496(A;A)
Alt rs398124496(A;A)
Reference rs398124496(G;G)
Significance Probable-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.51656066C>T
CLNSRC ClinVar Emory University
CLNACC RCV000082583.3, RCV000179136.1,