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: rs3836790
rs3836790
SLC6A3
5 0.882 0.080 5 1411740 intron variant -/ACATACACACTCAGACACACATACCATGCA ins 0.010 1.000 1 2014 2014
dbSNP: rs786205019
rs786205019
MECP2
2 0.925 0.120 X 154030644 splice acceptor variant CTCTCGGGCTCAGGTGGAGGT/TGCTCAAGTCCTGGGGCTCAG mnv 0.700 0
dbSNP: rs1114167295
rs1114167295
MAGED2
6 0.827 0.160 X 54812169 frameshift variant C/- del 0.700 0
dbSNP: rs1131691299
rs1131691299
DDX3X
9 0.882 0.160 X 41341587 frameshift variant C/- del 0.700 0
dbSNP: rs80359636
rs80359636
BRCA2
7 0.851 0.240 13 32354921 frameshift variant CT/- delins 2.8E-05 0.700 1.000 6 2005 2013
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
7 0.807 0.280 15 89326678 frameshift variant A/- delins 0.700 1.000 3 2010 2017
dbSNP: rs11317767
rs11317767
LOC105371529
1 1.000 0.040 17 8770824 intergenic variant TTT/-;TT;TTTT delins 0.700 1.000 1 2018 2018
dbSNP: rs1135402760
rs1135402760
BRSK2
6 0.851 0.160 11 1451405 frameshift variant AG/- delins 0.700 1.000 1 2019 2019
dbSNP: rs142458453
rs142458453 		1 1.000 0.040 12 31377392 downstream gene variant TAAATAAA/-;TAAA;TAAATAAATAAA;TAAATAAATAAATAAA;TAAATAAATAAATAAATAAA;TAAATAAATAAATAAATAAATAAA;TAAATAAATAAATAAATAAATAAATAAA delins 0.700 1.000 1 2018 2018
dbSNP: rs1555447569
rs1555447569
SCAPER
4 0.851 0.160 15 76471314 frameshift variant ATTG/- delins 0.700 1.000 1 2017 2017
dbSNP: rs3047819
rs3047819
MEF2C
1 1.000 0.040 5 88879383 intron variant TATA/-;TA;TATATA delins 0.700 1.000 1 2018 2018
dbSNP: rs5886709
rs5886709
FOXP2
1 1.000 0.040 7 114446079 intron variant CT/- delins 0.39 0.700 1.000 1 2019 2019
dbSNP: rs1085308050
rs1085308050
PTEN
7 0.827 0.160 10 87933178 frameshift variant -/A delins 0.700 0
dbSNP: rs1131691771
rs1131691771
PHIP ; IRAK1BP1
18 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0
dbSNP: rs1131692232
rs1131692232
PUF60
6 0.851 0.160 8 143818426 inframe deletion GGGCAAAGG/- delins 0.700 0
dbSNP: rs1554210073
rs1554210073
PHIP
21 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
dbSNP: rs1555013332
rs1555013332
SHANK2
4 0.882 0.160 11 70661635 frameshift variant -/T delins 0.700 0
dbSNP: rs1555565492
rs1555565492
RAI1
18 0.776 0.160 17 17795417 frameshift variant -/G delins 0.700 0
dbSNP: rs1555640521
rs1555640521
LAMA1
15 0.790 0.320 18 6942110 frameshift variant A/- delins 0.700 0
dbSNP: rs1562114190
rs1562114190
PHIP ; IRAK1BP1
21 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
dbSNP: rs1562134961
rs1562134961
PHIP ; IRAK1BP1
13 0.776 0.320 6 78969879 frameshift variant A/- delins 0.700 0
dbSNP: rs1562150844
rs1562150844
PHIP
14 0.790 0.280 6 78982908 frameshift variant CTTT/- delins 0.700 0
dbSNP: rs730882197
rs730882197
C12orf4
4 0.925 0.040 12 4525342 frameshift variant -/GTTT delins 0.700 0
dbSNP: rs869312705
rs869312705
CHD2
3 0.882 0.080 15 92953405 frameshift variant C/- delins 0.700 0
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 0.950 20 2005 2017