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: rs121913502
rs121913502
IDH2
19 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs751713049
rs751713049
SRSF2 ; MFSD11 ; MIR636
5 0.851 0.200 17 76736877 missense variant G/A;C;T snv 6.3E-05; 2.9E-05; 1.2E-04 0.010 1.000 1 2018 2018