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: rs1057518957
rs1057518957
CHRND
4 1.000 0.040 2 232535143 missense variant G/T snv 0.700 0
dbSNP: rs1057518958
rs1057518958
CHRND
4 1.000 0.040 2 232531353 frameshift variant T/- del 0.700 0
dbSNP: rs1060499549
rs1060499549
ZNF462
4 0.882 0.120 9 106927699 stop gained C/T snv 0.700 0
dbSNP: rs758026634
rs758026634
TWNK ; MRPL43
5 0.827 0.240 10 100989280 missense variant G/A;C snv 2.0E-05 0.010 1.000 1 2013 2013
dbSNP: rs1554442015
rs1554442015
TWIST1
5 0.851 0.120 7 19116970 missense variant G/C snv 0.700 0
dbSNP: rs1569146993
rs1569146993
TCF20
5 0.851 0.320 22 42211700 frameshift variant -/C delins 0.700 0
dbSNP: rs121912823
rs121912823
CHAT
6 0.851 0.280 10 49627681 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1555669248
rs1555669248
TUBB6
6 0.807 0.280 18 12325970 missense variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs118192177
rs118192177
RYR1
6 0.851 0.160 19 38496283 missense variant C/G;T snv 2.0E-05 0.700 0
dbSNP: rs200473652
rs200473652
UNC80
7 0.807 0.200 2 209819105 missense variant G/C snv 1.4E-03 1.6E-03 0.700 0
dbSNP: rs863224880
rs863224880
IGHMBP2
7 0.925 0.160 11 68906074 stop gained G/A snv 0.700 0
dbSNP: rs886041094
rs886041094
UNC80
7 0.807 0.200 2 209941379 missense variant G/A snv 1.9E-05 2.1E-05 0.700 0
dbSNP: rs1554642022
rs1554642022
PUF60 ; SCRIB
8 0.851 0.200 8 143816981 stop gained G/A snv 0.700 0
dbSNP: rs201217593
rs201217593
DMD
8 0.790 0.200 X 31177947 stop gained C/T snv 2.2E-05 2.9E-05 0.700 0
dbSNP: rs140614802
rs140614802
ADSS1 ; LOC107984670
10 0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05 0.700 0
dbSNP: rs137852813
rs137852813
SOS1
11 0.807 0.200 2 39051202 missense variant A/C;G snv 0.700 1.000 5 2007 2011
dbSNP: rs140291094
rs140291094
STAC3
11 0.742 0.320 12 57244322 missense variant C/G snv 9.1E-05 3.8E-04 0.010 1.000 1 2017 2017
dbSNP: rs121913378
rs121913378
BRAF
11 0.776 0.280 7 140753337 missense variant C/A;G;T snv 0.700 0
dbSNP: rs121913528
rs121913528
KRAS
12 0.851 0.160 12 25227349 missense variant C/A;T snv 0.700 0
dbSNP: rs886041125
rs886041125
ANKRD11
12 0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 0.700 0
dbSNP: rs267607079
rs267607079
SOS1
13 0.776 0.240 2 39022772 missense variant C/A;G snv 0.700 0
dbSNP: rs587776917
rs587776917
ECEL1
13 0.776 0.200 2 232485937 stop gained -/T delins 0.700 0
dbSNP: rs1060503383
rs1060503383
SYNGAP1
14 0.882 0.200 6 33441318 stop gained C/T snv 0.700 0
dbSNP: rs1555247672
rs1555247672
MED13L
14 0.827 0.200 12 116007542 stop gained G/A snv 0.700 0
dbSNP: rs730881014
rs730881014
RIT1
15 0.776 0.360 1 155904494 stop gained A/C;G;T snv 0.700 0