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: rs121908531
rs121908531
DNM1L ; YARS2
4 0.851 0.080 12 32731118 missense variant C/A;G snv 0.800 1.000 7 2007 2018
dbSNP: rs863223953
rs863223953
DNM1L ; YARS2
10 0.776 0.240 12 32731362 missense variant C/T snv 0.800 1.000 7 2007 2018
dbSNP: rs879255685
rs879255685
DNM1L ; YARS2
1 1.000 12 32731019 missense variant G/A snv 0.800 1.000 7 2007 2018
dbSNP: rs886037861
rs886037861
DNM1L ; YARS2
1 1.000 12 32731018 missense variant G/A snv 0.800 1.000 7 2007 2018
dbSNP: rs879255688
rs879255688
DNM1L
1 1.000 12 32701418 missense variant A/G snv 0.700 1.000 7 2007 2018
dbSNP: rs879253874
rs879253874
DNM1L ; YARS2
1 1.000 12 32731492 missense variant G/T snv 0.700 1.000 1 2007 2007
dbSNP: rs1057518694
rs1057518694
DNM1L ; YARS2
2 1.000 12 32731069 missense variant G/A snv 0.700 0
dbSNP: rs1565548029
rs1565548029
DNM1L ; YARS2
3 0.925 0.120 12 32742666 missense variant A/G snv 0.700 0