Gene: PKP2 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1425855043
rs1425855043
PKP2
2 1.000 0.080 12 32878105 stop gained C/A snv 0.700 0
dbSNP: rs1555142963
rs1555142963
PKP2
1 12 32822477 frameshift variant TCCTGCTTCGACTGCCAAAACAT/- delins 0.700 0
dbSNP: rs1555144459
rs1555144459
PKP2
3 0.925 0.120 12 32841038 frameshift variant -/A delins 0.700 0
dbSNP: rs1565590176
rs1565590176
PKP2
1 12 32850767 splice region variant T/A snv 0.700 0
dbSNP: rs1565590309
rs1565590309
PKP2
1 12 32850910 stop gained G/A snv 0.700 0
dbSNP: rs193922674
rs193922674
PKP2
3 0.925 0.080 12 32802557 splice acceptor variant C/G snv 3.2E-05 2.8E-05 0.700 0
dbSNP: rs397516997
rs397516997
PKP2
3 0.925 0.080 12 32896581 frameshift variant TCTG/- delins 2.8E-05 0.700 0
dbSNP: rs869025496
rs869025496
PKP2
3 0.925 0.080 12 32877845 splice donor variant C/A;G;T snv 4.0E-06 0.700 0