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rs398124477

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 rs398124477(A;A)
ReferenceGRCh38 38.1/141
Chromosome6
Position52055730
GenePKHD1
is asnp
is mentioned by
dbSNPrs398124477
ebirs398124477
HLIrs398124477
Exacrs398124477
Varsomers398124477
Maprs398124477
PheGenIrs398124477
hapmaprs398124477
1000 genomesrs398124477
hgdprs398124477
ensemblrs398124477
gopubmedrs398124477
geneviewrs398124477
scholarrs398124477
googlers398124477
pharmgkbrs398124477
gwascentralrs398124477
openSNPrs398124477
23andMers398124477
23andMe allrs398124477
SNP Nexus

SNPshotrs398124477
SNPdbers398124477
MSV3drs398124477
GWAS Ctlgrs398124477
Max Magnitude3
ClinVar
Risk rs398124477(A;A)
Alt rs398124477(A;A)
Reference rs398124477(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.51920528C>T
CLNSRC ClinVar
CLNACC RCV000082530.3, RCV000175488.1,