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rs28939383

From SNPedia

Merged intors137852944
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(C;T) 3 carrier of a polycystic kidney disease allele
(T;T) 6 Polycystic kidney disease
ReferenceGRCh38 38.1/141
Chromosome6
Position52083201
GenePKHD1
is asnp
is mentioned by
dbSNPrs28939383
dbSNP (classic)rs28939383
ClinGenrs28939383
ebirs28939383
HLIrs28939383
Exacrs28939383
Gnomadrs28939383
Varsomers28939383
LitVarrs28939383
Maprs28939383
PheGenIrs28939383
Biobankrs28939383
1000 genomesrs28939383
hgdprs28939383
ensemblrs28939383
geneviewrs28939383
scholarrs28939383
googlers28939383
pharmgkbrs28939383
gwascentralrs28939383
openSNPrs28939383
23andMers28939383
SNPshotrs28939383
SNPdbers28939383
MSV3drs28939383
GWAS Ctlgrs28939383
StatusMerged into rs137852944
Max Magnitude6

The A allele of this SNP is associated with autosomal recessive Polycystic Kidney disease, but it may also be protective against colorectal cancer. [PMID 21274727OA-icon.png]

OMIM606702
DescPOLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
Variant0001
Relatedalso