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rs142107837

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs142107837(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position52028349
GenePKHD1
is asnp
is mentioned by
dbSNPrs142107837
ebirs142107837
HLIrs142107837
Exacrs142107837
Varsomers142107837
Maprs142107837
PheGenIrs142107837
hapmaprs142107837
1000 genomesrs142107837
hgdprs142107837
ensemblrs142107837
gopubmedrs142107837
geneviewrs142107837
scholarrs142107837
googlers142107837
pharmgkbrs142107837
gwascentralrs142107837
openSNPrs142107837
23andMers142107837
23andMe allrs142107837
SNP Nexus

SNPshotrs142107837
SNPdbers142107837
MSV3drs142107837
GWAS Ctlgrs142107837
Max Magnitude0
ClinVar
Risk rs142107837(T;T)
Alt rs142107837(T;T)
Reference rs142107837(C;C)
Significance Probable-Pathogenic
Disease Polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Polycystic kidney disease, infantile type
Reversed 0
HGVS NC_000006.11:g.51893147C>T
CLNSRC
CLNACC RCV000169334.1,