Have questions? Visit https://www.reddit.com/r/SNPedia

rs398124487

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 rs398124487(A;A)
ReferenceGRCh38 38.1/141
Chromosome6
Position52024573
GenePKHD1
is asnp
is mentioned by
dbSNPrs398124487
ebirs398124487
HLIrs398124487
Exacrs398124487
Varsomers398124487
Maprs398124487
PheGenIrs398124487
hapmaprs398124487
1000 genomesrs398124487
hgdprs398124487
ensemblrs398124487
gopubmedrs398124487
geneviewrs398124487
scholarrs398124487
googlers398124487
pharmgkbrs398124487
gwascentralrs398124487
openSNPrs398124487
23andMers398124487
23andMe allrs398124487
SNP Nexus

SNPshotrs398124487
SNPdbers398124487
MSV3drs398124487
GWAS Ctlgrs398124487
Max Magnitude3
ClinVar
Risk rs398124487(A;A)
Alt rs398124487(A;A)
Reference rs398124487(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.51889371C>T
CLNSRC ClinVar
CLNACC RCV000082556.3, RCV000177669.1,