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rs398124484

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CC;CC) 0 common in clinvar
(CC;G) 3 carrier of a polycystic kidney disease allele
(G;G) 6 Polycystic kidney disease
ReferenceGRCh38 38.1/141
Chromosome6
Position52026048
GenePKHD1
is asnp
is mentioned by
dbSNPrs398124484
ebirs398124484
HLIrs398124484
Exacrs398124484
Varsomers398124484
Maprs398124484
PheGenIrs398124484
hapmaprs398124484
1000 genomesrs398124484
hgdprs398124484
ensemblrs398124484
gopubmedrs398124484
geneviewrs398124484
scholarrs398124484
googlers398124484
pharmgkbrs398124484
gwascentralrs398124484
openSNPrs398124484
23andMers398124484
23andMe allrs398124484
SNP Nexus

SNPshotrs398124484
SNPdbers398124484
MSV3drs398124484
GWAS Ctlgrs398124484
Max Magnitude6

rs398124484, also known as c.3761_3762del insG or p.Ala1254fs, is a SNP in the PKHD1 gene on chromosome 6.

The risk allele, rs398124484(G), is considered causative for autosomal recessive Polycystic kidney disease.


ClinVar
Risk rs398124484(G;G)
Alt rs398124484(G;G)
Reference rs398124484(CC;CC)
Significance Other
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.51890846_51890847delGGinsC
CLNSRC HGMD
CLNACC RCV000082548.3, RCV000169008.3,