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rs760222236

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common/normal
(A;G) 3 carrier of an autosomal recessive polycystic kidney disease mutation
(G;G) 6 Polycystic kidney disease
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position51753281
GenePKHD1
is asnp
is mentioned by
dbSNPrs760222236
dbSNP (old)rs760222236
ClinGenrs760222236
ebirs760222236
HLIrs760222236
Exacrs760222236
Gnomadrs760222236
Varsomers760222236
Maprs760222236
PheGenIrs760222236
Biobankrs760222236
1000 genomesrs760222236
hgdprs760222236
ensemblrs760222236
gopubmedrs760222236
geneviewrs760222236
scholarrs760222236
googlers760222236
pharmgkbrs760222236
gwascentralrs760222236
openSNPrs760222236
23andMers760222236
23andMe allrs760222236
SNP Nexus

SNPshotrs760222236
SNPdbers760222236
MSV3drs760222236
GWAS Ctlgrs760222236
Max Magnitude6
rs760222236, also known as c.8870T>C, I2957T or p.Ile2957Thr, is a mutation in the PKHD1 gene, associated with polycystic kidney disease.

The rare rs760222236(G) allele when inherited in two copies or as a compound heterozygote leads to the disease.[PMID 19914852OA-icon.png]

This SNP is referred to as i5000045 and i6016633 by 23andMe.

ClinVar
Risk Rs760222236(G;G)
Alt Rs760222236(G;G)
Reference Rs760222236(A;A)
Significance Pathogenic
Disease Autosomal recessive polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Autosomal recessive polycystic kidney disease
Reversed 0
HGVS NC_000006.11:g.51618079A>G
CLNSRC
CLNACC RCV000390646.1,