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rs398124476

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 Carrier of an autosomal recessive polycystic kidney disease mutation
(G;G) 0 common in clinvar


Make rs398124476(A;A)
ReferenceGRCh38 38.1/141
Chromosome6
Position52056889
GenePKHD1
is asnp
is mentioned by
dbSNPrs398124476
ebirs398124476
HLIrs398124476
Exacrs398124476
Varsomers398124476
Maprs398124476
PheGenIrs398124476
hapmaprs398124476
1000 genomesrs398124476
hgdprs398124476
ensemblrs398124476
gopubmedrs398124476
geneviewrs398124476
scholarrs398124476
googlers398124476
pharmgkbrs398124476
gwascentralrs398124476
openSNPrs398124476
23andMers398124476
23andMe allrs398124476
SNP Nexus

SNPshotrs398124476
SNPdbers398124476
MSV3drs398124476
GWAS Ctlgrs398124476
Max Magnitude3
ClinVar
Risk rs398124476(A;A)
Alt rs398124476(A;A)
Reference rs398124476(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.51921687C>T
CLNSRC ClinVar
CLNACC RCV000082529.3, RCV000175244.1,