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rs398124479

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 rs398124479(A;A)
ReferenceGRCh38 38.1/141
Chromosome6
Position52048491
GenePKHD1
is asnp
is mentioned by
dbSNPrs398124479
ebirs398124479
HLIrs398124479
Exacrs398124479
Varsomers398124479
Maprs398124479
PheGenIrs398124479
hapmaprs398124479
1000 genomesrs398124479
hgdprs398124479
ensemblrs398124479
gopubmedrs398124479
geneviewrs398124479
scholarrs398124479
googlers398124479
pharmgkbrs398124479
gwascentralrs398124479
openSNPrs398124479
23andMers398124479
23andMe allrs398124479
SNP Nexus

SNPshotrs398124479
SNPdbers398124479
MSV3drs398124479
GWAS Ctlgrs398124479
Max Magnitude3
ClinVar
Risk rs398124479(A;A)
Alt rs398124479(A;A)
Reference rs398124479(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.51913289C>T
CLNSRC ClinVar
CLNACC RCV000082539.3, RCV000176434.1,