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rs398124491

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of an autosomal recessive polycystic kidney disease mutation
Make rs398124491(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position52070431
GenePKHD1
is asnp
is mentioned by
dbSNPrs398124491
ebirs398124491
HLIrs398124491
Exacrs398124491
Varsomers398124491
Maprs398124491
PheGenIrs398124491
hapmaprs398124491
1000 genomesrs398124491
hgdprs398124491
ensemblrs398124491
gopubmedrs398124491
geneviewrs398124491
scholarrs398124491
googlers398124491
pharmgkbrs398124491
gwascentralrs398124491
openSNPrs398124491
23andMers398124491
23andMe allrs398124491
SNP Nexus

SNPshotrs398124491
SNPdbers398124491
MSV3drs398124491
GWAS Ctlgrs398124491
Max Magnitude3
ClinVar
Risk rs398124491(G;G)
Alt rs398124491(G;G)
Reference rs398124491(A;A)
Significance Probable-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.51935229T>C
CLNSRC ClinVar Emory University
CLNACC RCV000082568.3, RCV000173921.1,