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rs200179145

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 6 Polycystic kidney disease
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position51903601
GenePKHD1
is asnp
is mentioned by
dbSNPrs200179145
ebirs200179145
HLIrs200179145
Exacrs200179145
Varsomers200179145
Maprs200179145
PheGenIrs200179145
hapmaprs200179145
1000 genomesrs200179145
hgdprs200179145
ensemblrs200179145
gopubmedrs200179145
geneviewrs200179145
scholarrs200179145
googlers200179145
pharmgkbrs200179145
gwascentralrs200179145
openSNPrs200179145
23andMers200179145
23andMe allrs200179145
SNP Nexus

SNPshotrs200179145
SNPdbers200179145
MSV3drs200179145
GWAS Ctlgrs200179145
Max Magnitude6

rs200179145, also known as c.6992T>A, p.Ile2331Lys or I2331K, is a SNP in the PKHD1 gene on chromosome 6.

The risk allele, rs200179145(A), is considered causative for autosomal recessive Polycystic kidney disease.

This SNP is referred to as i6016629 by 23andMe.


ClinVar
Risk rs200179145(G,T;G,T)
Alt rs200179145(G,T;G,T)
Reference rs200179145(A;A)
Significance Probable-Pathogenic
Disease Polycystic kidney disease
Variation info
Gene PKHD1
CLNDBN Polycystic kidney disease, infantile type
Reversed 0
HGVS NC_000006.11:g.51768399A>T
CLNSRC
CLNACC RCV000169149.1,