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rs200511261

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 38.1/142
Chromosome6
Position51748086
GenePKHD1
is asnp
is mentioned by
dbSNPrs200511261
dbSNP (old)rs200511261
ClinGenrs200511261
ebirs200511261
HLIrs200511261
Exacrs200511261
Varsomers200511261
Maprs200511261
PheGenIrs200511261
Biobankrs200511261
1000 genomesrs200511261
hgdprs200511261
ensemblrs200511261
gopubmedrs200511261
geneviewrs200511261
scholarrs200511261
googlers200511261
pharmgkbrs200511261
gwascentralrs200511261
openSNPrs200511261
23andMers200511261
23andMe allrs200511261
SNP Nexus

SNPshotrs200511261
SNPdbers200511261
MSV3drs200511261
GWAS Ctlgrs200511261
Max Magnitude6

rs200511261, also known as c.9530T>C, p.Ile3177Thr or I3177T, is a SNP in the PKHD1 gene on chromosome 6.

The risk allele, rs200511261(G), is considered causative for autosomal recessive Polycystic kidney disease.

This SNP is referred to as i5000043 and i6016654 by 23andMe.

ClinVar
Risk Rs200511261(G;G)
Alt Rs200511261(G;G)
Reference Rs200511261(A;A)
Significance Pathogenic
Disease not provided
Variation info
Gene PKHD1
CLNDBN not provided
Reversed 0
HGVS NC_000006.11:g.51612884A>G
CLNSRC
CLNACC RCV000444254.1,