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rs201082169

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 6 Polycystic kidney disease
(A;G) 3 carrier of an autosomal recessive polycystic kidney disease mutation
(G;G) 0 common/normal
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position51659952
GeneLOC105375087, PKHD1
is asnp
is mentioned by
dbSNPrs201082169
ebirs201082169
HLIrs201082169
Exacrs201082169
Varsomers201082169
Maprs201082169
PheGenIrs201082169
hapmaprs201082169
1000 genomesrs201082169
hgdprs201082169
ensemblrs201082169
gopubmedrs201082169
geneviewrs201082169
scholarrs201082169
googlers201082169
pharmgkbrs201082169
gwascentralrs201082169
openSNPrs201082169
23andMers201082169
23andMe allrs201082169
SNP Nexus

SNPshotrs201082169
SNPdbers201082169
MSV3drs201082169
GWAS Ctlgrs201082169
Max Magnitude6
rs201082169, also known as c.10174C>T or p.Gln3392X, is a SNP in the PKHD1 gene on chromosome 6.

The risk allele, rs201082169(A), is considered causative for autosomal recessive Polycystic kidney disease.

This SNP is referred to as i5000046 and i6016608 by 23andMe.