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: rs113331868
rs113331868
CAMK2A
6 5 150228191 splice donor variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1562159562
rs1562159562
WASF1
1 6 110101594 stop gained G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1562159599
rs1562159599
WASF1
1 6 110101628 frameshift variant G/CCTGGC delins 0.700 1.000 1 2018 2018
dbSNP: rs879255580
rs879255580
CLCN4
1 X 10206437 missense variant T/G snv 0.700 1.000 1 2018 2018
dbSNP: rs879255581
rs879255581
CLCN4
1 X 10206464 missense variant T/C snv 0.700 1.000 1 2018 2018
dbSNP: rs879255582
rs879255582
CLCN4
1 X 10213705 missense variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs879255583
rs879255583
CLCN4
1 X 10213768 missense variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs879255584
rs879255584
CLCN4
1 X 10220837 missense variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs879255585
rs879255585
CLCN4
1 X 10206756 missense variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs879255586
rs879255586
CLCN4
1 X 10213979 frameshift variant -/A delins 0.700 1.000 1 2018 2018
dbSNP: rs879255590
rs879255590
CLCN4
1 X 10208595 splice region variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1057518772
rs1057518772
KCNQ2 ; LOC105372721
1 20 63433860 missense variant A/C;G snv 0.700 0
dbSNP: rs1057518777
rs1057518777
UBE3A ; SNHG14
2 15 25339239 splice acceptor variant -/TGAGATGTAGGTA delins 0.700 0
dbSNP: rs1057518800
rs1057518800
GRIN2B
2 12 13567228 missense variant C/T snv 0.700 0
dbSNP: rs1057524031
rs1057524031
ARHGAP4 ; NAA10
1 X 153932422 missense variant G/A snv 0.700 0
dbSNP: rs1060499737
rs1060499737
DHX37
3 12 124968903 missense variant G/T snv 0.700 0
dbSNP: rs1060499740
rs1060499740
CINP
3 14 102348559 stop lost A/C snv 0.700 0
dbSNP: rs1135401779
rs1135401779
ZNF292
1 6 87256692 frameshift variant AAGA/- delins 0.700 0
dbSNP: rs1189909394
rs1189909394
KCNK4 ; KCNK4-TEX40
5 11 64298178 missense variant G/A;C snv 7.0E-06 0.700 0
dbSNP: rs137939966
rs137939966
MYOCD
2 17 12752540 missense variant A/G snv 1.6E-04 8.4E-04 0.700 0
dbSNP: rs1461148946
rs1461148946
FLNA
3 X 154354979 missense variant A/C snv 9.3E-06 0.700 0
dbSNP: rs1553196096
rs1553196096
CDC42
5 1 22086463 missense variant G/A snv 0.700 0
dbSNP: rs1553283831
rs1553283831
HNRNPU
1 1 244863711 frameshift variant -/G delins 0.700 0
dbSNP: rs1554129040
rs1554129040
PURA
1 5 140114334 frameshift variant -/G delins 0.700 0
dbSNP: rs1555906707
rs1555906707
MSL3
1 X 11765481 missense variant T/C snv 0.700 0