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PKP2

From SNPedia

is agene
is mentioned by
Full nameplakophilin 2
EntrezGene5318
PheGenI5318
VariationViewer5318
ClinVarPKP2
GeneCardsPKP2
dbSNP5318
SADR5318
HugeNav5318
wikipediaPKP2
googlePKP2
gopubmedPKP2
EVSPKP2
HEFalMpPKP2
MyGene2PKP2
23andMePKP2
UniProtQ99959
EnsemblENSG00000057294
OMIM602861
# SNPs96
 Max MagnitudeChromosome positionSummary
rs111517471032,796,108
rs121434420032,879,021
rs1214344213.532,802,499
rs144601090032,821,439
rs145493332,864,109
rs193922672032,841,103
rs193922673032,821,473
rs193922674032,802,557
rs200343561032,841,047
rs201405287032,822,589
rs372827156032,850,907
rs373222905032,878,332
rs397516986032,868,965
rs397516987032,868,925
rs39751698832,868,920
rs397516989032,850,932
rs397516990032,850,873
rs397516992032,850,829
rs397516993032,850,772
rs397516994032,850,765
rs397516996032,896,718
rs397516997032,896,581
rs397517001032,841,102
rs397517003032,841,027
rs397517005032,824,142
rs397517008032,824,092
rs397517009032,824,091
rs397517010032,822,616
rs397517012032,822,526
rs397517013032,822,482
rs397517015032,821,502
rs397517017032,821,382
rs397517021032,802,500
rs397517022032,796,260
rs397517025032,878,984
rs397517030032,877,897
rs727504430032,878,108
rs727504432032,792,712
rs727504509032,796,114
rs727504786032,792,670
rs730880180032,869,018
rs749926313032,841,169
rs751288871032,822,487
rs754912778032,869,034
rs760576804032,878,512
rs762103704032,850,764
rs763639737032,878,981
rs76481768332,821,488
rs766209297032,868,935
rs767987619032,878,217
... further results


PKP2 mutations are sometimes associated with Arrhythmogenic Right Ventricular Cardiomyopathy, also known as ARVC or ARVD.

In addition to SNPedia's page about ARVD, see the Genetics Home Reference[1] for more on this condition.