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: rs1555652383
rs1555652383
BPTF
13 0.807 0.160 17 67912720 frameshift variant TG/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1555743003
rs1555743003
ASXL3
58 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs782736894
rs782736894
BPTF
16 0.827 0.280 17 67975841 missense variant T/C;G snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1057516030
rs1057516030
DYRK1A ; LOC105372797
14 0.807 0.280 21 37480785 stop gained -/A delins 0.700 0
dbSNP: rs1057518960
rs1057518960
GJA1
7 0.882 0.160 6 121447333 missense variant G/C snv 0.700 0
dbSNP: rs878853250
rs878853250
SCN8A
37 0.752 0.360 12 51699663 stop gained T/A;C snv 0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
56 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
dbSNP: rs104894396
rs104894396
GJB2
28 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.010 1.000 1 2015 2015