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: rs121918354
rs121918354
PKP1
1 1.000 0.080 1 201317635 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1553275192
rs1553275192
PKP1
2 0.925 0.080 1 201316692 stop gained C/T snv 0.700 0
dbSNP: rs1558193923
rs1558193923
PKP1
1 1.000 0.080 1 201320265 splice acceptor variant A/T snv 0.700 0