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rs398124502

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 6 Polycystic Kidney disease
(-;A) 3 carrier of an autosomal recessive polycystic kidney disease mutation
(A;A) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome6
Position51747927
GenePKHD1
is asnp
is mentioned by
dbSNPrs398124502
ebirs398124502
HLIrs398124502
Exacrs398124502
Varsomers398124502
Maprs398124502
PheGenIrs398124502
hapmaprs398124502
1000 genomesrs398124502
hgdprs398124502
ensemblrs398124502
gopubmedrs398124502
geneviewrs398124502
scholarrs398124502
googlers398124502
pharmgkbrs398124502
gwascentralrs398124502
openSNPrs398124502
23andMers398124502
23andMe allrs398124502
SNP Nexus

SNPshotrs398124502
SNPdbers398124502
MSV3drs398124502
GWAS Ctlgrs398124502
Max Magnitude6

rs398124502, also known as c. 9689del A. or p.Asp3230fs, is a SNP in the PKHD1 gene on chromosome 6.

The risk allele, rs398124502(-), is considered causative for autosomal recessive polycystic kidney disease.

This SNP is most likely referred to as i5012610 by 23andMe.

ClinVar
Risk rs398124502(;)
Alt rs398124502(;)
Reference rs398124502(A;A)
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.51612725delT
CLNSRC HGMD
CLNACC RCV000082594.3, RCV000179217.1,