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: rs863223953
rs863223953
DNM1L ; YARS2
10 0.776 0.240 12 32731362 missense variant C/T snv 0.700 1.000 2 2016 2016
dbSNP: rs387906799
rs387906799
KIF1A
19 0.742 0.200 2 240788118 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057524820
rs1057524820
SCN8A
33 0.776 0.280 12 51765746 missense variant G/A;T snv 0.700 0
dbSNP: rs121913578
rs121913578
MTR
5 0.851 0.280 1 236895470 missense variant C/T snv 6.4E-05 8.4E-05 0.700 0
dbSNP: rs1556913180
rs1556913180
HUWE1
5 0.882 0.280 X 53536488 missense variant T/C snv 0.700 0
dbSNP: rs1556914274
rs1556914274
HUWE1
13 0.790 0.440 X 53537626 missense variant G/A snv 0.700 0
dbSNP: rs34757931
rs34757931
VPS11
26 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
33 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
dbSNP: rs61750240
rs61750240
MECP2
19 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.700 0
dbSNP: rs75184679
rs75184679
RNASEH2B
16 0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03 0.700 0