Gene: EPM2A ×
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: rs104893950
rs104893950
EPM2A
2 0.925 0.080 6 145627691 stop gained G/A;C snv 7.7E-05 0.700 1.000 3 1998 2014
dbSNP: rs781291421
rs781291421
EPM2A
1 1.000 0.040 6 145635468 stop gained C/A;T snv 1.2E-05; 2.8E-05 0.700 1.000 1 2004 2004