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rs398124478

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 rs398124478(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position52048558
GenePKHD1
is asnp
is mentioned by
dbSNPrs398124478
dbSNP (old)rs398124478
ClinGenrs398124478
ebirs398124478
HLIrs398124478
Exacrs398124478
Gnomadrs398124478
Varsomers398124478
Maprs398124478
PheGenIrs398124478
Biobankrs398124478
1000 genomesrs398124478
hgdprs398124478
ensemblrs398124478
gopubmedrs398124478
geneviewrs398124478
scholarrs398124478
googlers398124478
pharmgkbrs398124478
gwascentralrs398124478
openSNPrs398124478
23andMers398124478
23andMe allrs398124478
SNP Nexus

SNPshotrs398124478
SNPdbers398124478
MSV3drs398124478
GWAS Ctlgrs398124478
Max Magnitude3
ClinVar
Risk rs398124478(T;T)
Alt rs398124478(T;T)
Reference Rs398124478(C;C)
Significance Pathogenic
Disease not provided Autosomal recessive polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN not provided Autosomal recessive polycystic kidney disease
Reversed 1
HGVS NC_000006.11:g.51913356G>A
CLNSRC HGMD
CLNACC RCV000082537.3, RCV000176433.2,