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: rs1135401778
rs1135401778
BPTF
20 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
dbSNP: rs104886033
rs104886033
DHCR7
10 0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05 0.700 0
dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
36 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
dbSNP: rs1569518070
rs1569518070
COL6A1
33 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
dbSNP: rs28934906
rs28934906
MECP2
46 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
dbSNP: rs387907141
rs387907141
ARID1B
24 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0