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rs398124483

From SNPedia

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


Make rs398124483(-;-)
ReferenceGRCh38 38.1/141
Chromosome6
Position52079937
GenePKHD1
is asnp
is mentioned by
dbSNPrs398124483
ebirs398124483
HLIrs398124483
Exacrs398124483
Varsomers398124483
Maprs398124483
PheGenIrs398124483
hapmaprs398124483
1000 genomesrs398124483
hgdprs398124483
ensemblrs398124483
gopubmedrs398124483
geneviewrs398124483
scholarrs398124483
googlers398124483
pharmgkbrs398124483
gwascentralrs398124483
openSNPrs398124483
23andMers398124483
23andMe allrs398124483
SNP Nexus

SNPshotrs398124483
SNPdbers398124483
MSV3drs398124483
GWAS Ctlgrs398124483
Max Magnitude3
ClinVar
Risk rs398124483(;)
Alt rs398124483(;)
Reference rs398124483(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.51944735delC
CLNSRC HGMD
CLNACC RCV000082547.3, RCV000179010.1,