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rs398124481

From SNPedia

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


Make rs398124481(-;-)
ReferenceGRCh38 38.1/141
Chromosome6
Position52043128
GenePKHD1
is asnp
is mentioned by
dbSNPrs398124481
ebirs398124481
HLIrs398124481
Exacrs398124481
Varsomers398124481
Maprs398124481
PheGenIrs398124481
hapmaprs398124481
1000 genomesrs398124481
hgdprs398124481
ensemblrs398124481
gopubmedrs398124481
geneviewrs398124481
scholarrs398124481
googlers398124481
pharmgkbrs398124481
gwascentralrs398124481
openSNPrs398124481
23andMers398124481
23andMe allrs398124481
SNP Nexus

SNPshotrs398124481
SNPdbers398124481
MSV3drs398124481
GWAS Ctlgrs398124481
Max Magnitude3
ClinVar
Risk rs398124481(;)
Alt rs398124481(;)
Reference rs398124481(GA;GA)
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.51907926_51907927delTC
CLNSRC ClinVar
CLNACC RCV000082542.3, RCV000176775.1,