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: rs748787734
rs748787734
TUBB4A
13 0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 0.700 1.000 1 2014 2014
dbSNP: rs1057519439
rs1057519439
DNAH7
5 1.000 0.120 2 195787135 missense variant A/G snv 0.700 0
dbSNP: rs587777446
rs587777446
IFIH1
11 0.807 0.200 2 162273913 missense variant C/T snv 4.0E-06 0.700 0