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rs398124501

From SNPedia

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


Make rs398124501(-;-)
ReferenceGRCh38 38.1/141
Chromosome6
Position52065001
GenePKHD1
is asnp
is mentioned by
dbSNPrs398124501
ebirs398124501
HLIrs398124501
Exacrs398124501
Varsomers398124501
Maprs398124501
PheGenIrs398124501
hapmaprs398124501
1000 genomesrs398124501
hgdprs398124501
ensemblrs398124501
gopubmedrs398124501
geneviewrs398124501
scholarrs398124501
googlers398124501
pharmgkbrs398124501
gwascentralrs398124501
openSNPrs398124501
23andMers398124501
23andMe allrs398124501
SNP Nexus

SNPshotrs398124501
SNPdbers398124501
MSV3drs398124501
GWAS Ctlgrs398124501
Max Magnitude3
ClinVar
Risk rs398124501(;)
Alt rs398124501(;)
Reference rs398124501(C;C)
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.51929799delG
CLNSRC ClinVar
CLNACC RCV000082592.3, RCV000174614.2,