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: rs1557781252
rs1557781252
GATAD2B
33 0.742 0.320 1 153816414 stop gained G/A snv 0.700 0
dbSNP: rs587777893
rs587777893
MTOR
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
dbSNP: rs1131692229
rs1131692229
KIDINS220
11 0.851 0.120 2 8730956 frameshift variant GT/- delins 0.700 0
dbSNP: rs1553553086
rs1553553086
FARSB
9 0.827 0.280 2 222623699 missense variant C/T snv 0.700 0
dbSNP: rs112795301
rs112795301
FOXP1
13 0.776 0.160 3 70972634 stop gained G/A snv 0.700 0
dbSNP: rs864309486
rs864309486
GMNN
21 0.763 0.320 6 24777262 stop gained A/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1010184002
rs1010184002
PEX6
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs61753219
rs61753219
PEX6
64 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
dbSNP: rs180177035
rs180177035
BRAF
35 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006
dbSNP: rs886040971
rs886040971
TRPS1
56 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
dbSNP: rs1057519334
rs1057519334
NPR2
7 0.925 0.040 9 35802550 frameshift variant C/- del 0.700 0
dbSNP: rs1554691658
rs1554691658
PTCH1
11 0.807 0.240 9 95459653 frameshift variant C/GGGTCCACAACATCT delins 0.700 0
dbSNP: rs1564919048
rs1564919048
FGFR2
23 0.732 0.280 10 121520106 missense variant C/A snv 0.700 0
dbSNP: rs199473457
rs199473457
KCNQ1
12 0.827 0.200 11 2572020 missense variant C/A;T snv 0.700 0
dbSNP: rs1331463984
rs1331463984
TRAF7
33 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
dbSNP: rs1555575860
rs1555575860
COG4
31 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
dbSNP: rs376103091
rs376103091
EARS2
10 0.851 0.200 16 23544677 missense variant G/A snv 1.5E-04 2.0E-04 0.700 0
dbSNP: rs757788894
rs757788894
CLCN7
6 0.882 0.120 16 1449081 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs67394386
rs67394386
COL1A1
3 1.000 0.120 17 50188131 missense variant C/A;T snv 0.700 0
dbSNP: rs1555696625
rs1555696625
NFIX
7 0.851 0.360 19 13025409 missense variant G/A snv 0.700 0
dbSNP: rs1568269273
rs1568269273
NFIX
18 0.807 0.320 19 13025433 missense variant G/A snv 0.700 0
dbSNP: rs1569355102
rs1569355102
DYRK1A
51 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
dbSNP: rs1555939456
rs1555939456
RPS6KA3
21 0.851 0.200 X 20187956 missense variant T/C snv 0.700 0
dbSNP: rs1569301036
rs1569301036
TAF1
17 0.827 0.240 X 71397354 missense variant C/T snv 0.700 0
dbSNP: rs28934906
rs28934906
MECP2
46 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0