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: rs121908537
rs121908537
SUCLA2
1 1.000 13 47988901 missense variant C/T snv 0.800 1.000 4 2005 2013
dbSNP: rs121908538
rs121908538
SUCLA2
2 1.000 13 47954510 missense variant G/A snv 3.2E-05 1.4E-05 0.800 1.000 4 2005 2013
dbSNP: rs397515462
rs397515462
SUCLA2
1 1.000 13 47968646 missense variant C/T snv 0.800 1.000 4 2005 2013
dbSNP: rs113994161
rs113994161
SUCLA2
1 1.000 13 47988540 splice donor variant C/T snv 1.2E-05 0.700 0
dbSNP: rs1555256440
rs1555256440
SUCLA2
1 1.000 13 47954545 missense variant T/A snv 0.700 0