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PKP2

From SNPedia
is agene
is mentioned by
Full nameplakophilin 2
EntrezGene5318
PheGenI5318
VariationViewer5318
ClinVarPKP2
GeneCardsPKP2
dbSNP5318
DiseasesPKP2
SADR5318
HugeNav5318
wikipediaPKP2
googlePKP2
gopubmedPKP2
EVSPKP2
HEFalMpPKP2
MyGene2PKP2
23andMePKP2
UniProtQ99959
EnsemblENSG00000057294
OMIM602861
# SNPs116
 Max MagnitudeChromosome positionSummary
rs1057520597032,841,029
rs1057520650032,868,950
rs1057520726032,821,355
rs1060501182032,824,094
rs1060501184032,796,299
rs1060501186032,822,594
rs1060501188032,792,494
rs1064792929032,821,418
rs1064793231032,822,537
rs1064793905032,796,105
rs1064794350032,796,285
rs1064796069032,841,035
rs1064796241032,868,983
rs1064796268032,878,920
rs1085307949032,878,134
rs1115174716.732,796,108
rs1214344206.732,879,021
rs1214344216.732,802,499
rs143397927032,850,852
rs144601090032,821,439
rs1454933032,864,109
rs151212477132,843,203
rs193922672032,841,103
rs193922673032,821,473
rs1939226746.732,802,557
rs200343561032,841,047
rs201405287032,822,589
rs3728271566.732,850,907
rs373222905032,878,332
rs3975169866.732,868,965
rs397516987032,868,925
rs397516988032,868,920
rs3975169896.732,850,932
rs3975169906.732,850,873
rs397516992032,850,829
rs3975169936.732,850,772
rs397516994032,850,765
rs397516996032,896,718
rs397516997032,896,581
rs3975170016.732,841,102
rs397517003032,841,027
rs3975170056.732,824,142
rs397517008032,824,092
rs397517009032,824,091
rs397517010032,822,616
rs3975170126.732,822,526
rs397517013032,822,482
rs3975170156.732,821,502
rs3975170176.732,821,382
rs397517021032,802,500
... 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.