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rs746838237

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 common/normal
(T;T) 6 Polycystic kidney disease
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position51959882
GenePKHD1
is asnp
is mentioned by
dbSNPrs746838237
ebirs746838237
HLIrs746838237
Exacrs746838237
Varsomers746838237
Maprs746838237
PheGenIrs746838237
hapmaprs746838237
1000 genomesrs746838237
hgdprs746838237
ensemblrs746838237
gopubmedrs746838237
geneviewrs746838237
scholarrs746838237
googlers746838237
pharmgkbrs746838237
gwascentralrs746838237
openSNPrs746838237
23andMers746838237
23andMe allrs746838237
SNP Nexus

SNPshotrs746838237
SNPdbers746838237
MSV3drs746838237
GWAS Ctlgrs746838237
Max Magnitude6

rs746838237, also known as c.5895dupA or p.Leu1966fs, is a SNP in the PKHD1 gene on chromosome 6.

The risk allele, rs746838237(T), is considered causative for autosomal recessive Polycystic kidney disease.

This SNP is most likely referred to as i5012609 by 23andMe.

ClinVar
Risk rs746838237(T;T)
Alt rs746838237(T;T)
Reference rs746838237(;)
Significance Pathogenic
Disease not provided Polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN not provided Polycystic kidney disease, infantile type
Reversed 0
HGVS NC_000006.11:g.51824681dupT
CLNSRC HGMD
CLNACC RCV000153714.2, RCV000177889.1,