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: rs1568523935
rs1568523935
SLC25A42
20 0.776 0.240 19 19105656 stop gained C/G snv 0.700 0
dbSNP: rs35135520
rs35135520
TIMM50
12 0.827 0.200 19 39480879 stop gained C/A;G;T snv 3.1E-03; 4.6E-06 0.700 0
dbSNP: rs776019250
rs776019250
TIMM50
12 0.827 0.200 19 39482885 stop gained G/C;T snv 4.0E-06 0.700 0