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rs398124498

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Carrier of an autosomal recessive polycystic kidney disease mutation
Make rs398124498(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position52083223
GenePKHD1
is asnp
is mentioned by
dbSNPrs398124498
ebirs398124498
HLIrs398124498
Exacrs398124498
Varsomers398124498
Maprs398124498
PheGenIrs398124498
hapmaprs398124498
1000 genomesrs398124498
hgdprs398124498
ensemblrs398124498
gopubmedrs398124498
geneviewrs398124498
scholarrs398124498
googlers398124498
pharmgkbrs398124498
gwascentralrs398124498
openSNPrs398124498
23andMers398124498
23andMe allrs398124498
SNP Nexus

SNPshotrs398124498
SNPdbers398124498
MSV3drs398124498
GWAS Ctlgrs398124498
Max Magnitude3
ClinVar
Risk rs398124498(T;T)
Alt rs398124498(T;T)
Reference rs398124498(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.51948021C>A
CLNSRC ClinVar Emory University
CLNACC RCV000082585.3, RCV000177400.1,