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rs398124486

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;TATTCCCC) 3 Carrier of an autosomal recessive polycystic kidney disease mutation
Make rs398124486(TATTCCCC;TATTCCCC)
ReferenceGRCh38 38.1/141
Chromosome6
Position52025395
GenePKHD1
is asnp
is mentioned by
dbSNPrs398124486
ebirs398124486
HLIrs398124486
Exacrs398124486
Varsomers398124486
Maprs398124486
PheGenIrs398124486
hapmaprs398124486
1000 genomesrs398124486
hgdprs398124486
ensemblrs398124486
gopubmedrs398124486
geneviewrs398124486
scholarrs398124486
googlers398124486
pharmgkbrs398124486
gwascentralrs398124486
openSNPrs398124486
23andMers398124486
23andMe allrs398124486
SNP Nexus

SNPshotrs398124486
SNPdbers398124486
MSV3drs398124486
GWAS Ctlgrs398124486
Max Magnitude3
ClinVar
Risk rs398124486(TATTCCCC;TATTCCCC)
Alt rs398124486(TATTCCCC;TATTCCCC)
Reference rs398124486(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.51890193delCinsGGGGAATA
CLNSRC ClinVar
CLNACC RCV000082554.3, RCV000177670.1,