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: rs1057516211
rs1057516211
AIFM1 ; RAB33A
1 1.000 X 130133325 missense variant T/C snv 0.700 0
dbSNP: rs387906500
rs387906500
AIFM1 ; RAB33A
1 1.000 X 130147493 inframe deletion TCT/- delins 0.700 0
dbSNP: rs752742151
rs752742151
AIFM1 ; RAB33A
1 1.000 X 130147774 missense variant C/T snv 1.6E-05 9.4E-06 0.700 0