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: rs1555119216
rs1555119216
DNM1L
1 1.000 0.120 12 32713327 missense variant C/A snv 0.800 1.000 1 2017 2017
dbSNP: rs1555229948
rs1555229948
DNM1L
1 1.000 0.120 12 32679368 missense variant A/C snv 0.800 1.000 1 2017 2017
dbSNP: rs863223953
rs863223953
DNM1L ; YARS2
10 0.776 0.240 12 32731362 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1565548029
rs1565548029
DNM1L ; YARS2
3 0.925 0.120 12 32742666 missense variant A/G snv 0.700 0