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PKD1

From SNPedia

is agene
is mentioned by
Full namepolycystic kidney disease 1 (autosomal dominant)
EntrezGene5310
PheGenI5310
VariationViewer5310
ClinVarPKD1
GeneCardsPKD1
dbSNP5310
SADR5310
HugeNav5310
wikipediaPKD1
googlePKD1
gopubmedPKD1
EVSPKD1
HEFalMpPKD1
MyGene2PKD1
23andMePKD1
UniProtP98161
EnsemblENSG00000008710
OMIM601313
# SNPs25
 Max MagnitudeChromosome positionSummary
rs1378542182,088,293
rs13785422502,088,304
rs1378543172,088,326
rs1378543972,088,318
rs14881237602,099,955
rs19947609442,090,688
rs19947609542,089,957Polycystic Kidney disease
rs19947609642,091,806Polycystic Kidney disease
rs19947609742,090,468
rs19947609842,091,861Polycystic Kidney disease
rs19947609942,118,021Polycystic Kidney disease
rs19947610042,114,489Polycystic Kidney disease
rs19947610142,109,403Polycystic Kidney disease
rs19947610242,090,309Polycystic Kidney disease
rs30876312,089,126
rs3419776902,094,175
rs404332,114,807
rs4547270102,088,236
rs4550719902,088,294
rs4551741202,088,293
rs585980992,116,917
rs7960521332,118,760
rs7960535072,088,448
rs79704490202,106,248
rs86931294402,100,398

The PKD1 gene encodes the polycystin-1 glycoprotein. This protein plays a role in renal tubular development, and mutations in PKD1 have been associated with autosomal dominant Polycystic Kidney disease.Wikipedia