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rs137852947

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 rs137852947(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position51847871
GenePKHD1
is asnp
is mentioned by
dbSNPrs137852947
dbSNP (classic)rs137852947
ClinGenrs137852947
ebirs137852947
HLIrs137852947
Exacrs137852947
Gnomadrs137852947
Varsomers137852947
LitVarrs137852947
Maprs137852947
PheGenIrs137852947
Biobankrs137852947
1000 genomesrs137852947
hgdprs137852947
ensemblrs137852947
geneviewrs137852947
scholarrs137852947
googlers137852947
pharmgkbrs137852947
gwascentralrs137852947
openSNPrs137852947
23andMers137852947
SNPshotrs137852947
SNPdbers137852947
MSV3drs137852947
GWAS Ctlgrs137852947
Max Magnitude3
OMIM606702
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852947(T;T)
Alt rs137852947(T;T)
Reference Rs137852947(C;C)
Significance Pathogenic
Disease Autosomal recessive polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Autosomal recessive polycystic kidney disease
Reversed 1
HGVS NC_000006.11:g.51712669G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004328.2,