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rs398124495

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar


Make rs398124495(C;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position51791269
GenePKHD1
is asnp
is mentioned by
dbSNPrs398124495
ebirs398124495
HLIrs398124495
Exacrs398124495
Varsomers398124495
Maprs398124495
PheGenIrs398124495
hapmaprs398124495
1000 genomesrs398124495
hgdprs398124495
ensemblrs398124495
gopubmedrs398124495
geneviewrs398124495
scholarrs398124495
googlers398124495
pharmgkbrs398124495
gwascentralrs398124495
openSNPrs398124495
23andMers398124495
23andMe allrs398124495
SNP Nexus

SNPshotrs398124495
SNPdbers398124495
MSV3drs398124495
GWAS Ctlgrs398124495
Max Magnitude0
ClinVar
Risk rs398124495(C;C)
Alt rs398124495(C;C)
Reference rs398124495(T;T)
Significance Probable-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.51656067A>G
CLNSRC HGMD
CLNACC RCV000082582.3, RCV000179135.1,