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rs137852945

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852945(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position51748563
GenePKHD1
is asnp
is mentioned by
dbSNPrs137852945
ebirs137852945
HLIrs137852945
Exacrs137852945
Varsomers137852945
Maprs137852945
PheGenIrs137852945
hapmaprs137852945
1000 genomesrs137852945
hgdprs137852945
ensemblrs137852945
gopubmedrs137852945
geneviewrs137852945
scholarrs137852945
googlers137852945
pharmgkbrs137852945
gwascentralrs137852945
openSNPrs137852945
23andMers137852945
23andMe allrs137852945
SNP Nexus

SNPshotrs137852945
SNPdbers137852945
MSV3drs137852945
GWAS Ctlgrs137852945
Max Magnitude0
OMIM606702
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852945(T;T)
Alt rs137852945(T;T)
Reference rs137852945(C;C)
Significance Pathogenic
Disease Polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Polycystic kidney disease, infantile type
Reversed 1
HGVS NC_000006.11:g.51613361G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004326.3,