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rs398124503

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of an autosomal recessive polycystic kidney disease mutation
Make rs398124503(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position52062655
GenePKHD1
is asnp
is mentioned by
dbSNPrs398124503
dbSNP (old)rs398124503
ClinGenrs398124503
ebirs398124503
HLIrs398124503
Exacrs398124503
Gnomadrs398124503
Varsomers398124503
Maprs398124503
PheGenIrs398124503
Biobankrs398124503
1000 genomesrs398124503
hgdprs398124503
ensemblrs398124503
gopubmedrs398124503
geneviewrs398124503
scholarrs398124503
googlers398124503
pharmgkbrs398124503
gwascentralrs398124503
openSNPrs398124503
23andMers398124503
23andMe allrs398124503
SNP Nexus

SNPshotrs398124503
SNPdbers398124503
MSV3drs398124503
GWAS Ctlgrs398124503
Max Magnitude3
ClinVar
Risk rs398124503(T;T)
Alt rs398124503(T;T)
Reference Rs398124503(C;C)
Significance Other
Disease not provided Autosomal recessive polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN not provided Autosomal recessive polycystic kidney disease
Reversed 1
HGVS NC_000006.11:g.51927453G>A
CLNSRC HGMD
CLNACC RCV000082595.3, RCV000174804.1,