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rs398124480

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of an autosomal recessive polycystic kidney disease mutation
Make rs398124480(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position52046144
GenePKHD1
is asnp
is mentioned by
dbSNPrs398124480
ebirs398124480
HLIrs398124480
Exacrs398124480
Varsomers398124480
Maprs398124480
PheGenIrs398124480
hapmaprs398124480
1000 genomesrs398124480
hgdprs398124480
ensemblrs398124480
gopubmedrs398124480
geneviewrs398124480
scholarrs398124480
googlers398124480
pharmgkbrs398124480
gwascentralrs398124480
openSNPrs398124480
23andMers398124480
23andMe allrs398124480
SNP Nexus

SNPshotrs398124480
SNPdbers398124480
MSV3drs398124480
GWAS Ctlgrs398124480
Max Magnitude3
ClinVar
Risk rs398124480(T;T)
Alt rs398124480(T;T)
Reference rs398124480(C;C)
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.51910942G>A
CLNSRC ClinVar Emory University
CLNACC RCV000082540.3, RCV000176504.1,