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: 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: rs1564691414
rs1564691414
FAS
7 0.925 0.160 10 89007698 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1569110700
rs1569110700
TCF20
5 0.925 0.080 22 42179633 missense variant G/A snv 0.700 0
dbSNP: rs199821421
rs199821421
CREBBP
6 0.827 0.160 16 3728723 stop gained G/A;T snv 5.2E-05 0.700 0
dbSNP: rs386834070
rs386834070
VPS13B
9 0.851 0.360 8 99134644 stop gained C/T snv 0.700 0
dbSNP: rs587776667
rs587776667
PTEN
14 0.742 0.280 10 87931090 splice donor variant G/A;C;T snv 0.700 0
dbSNP: rs730882197
rs730882197
C12orf4
4 0.925 0.040 12 4525342 frameshift variant -/GTTT delins 0.700 0
dbSNP: rs758361736
rs758361736
KIF7
16 0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05 0.700 0
dbSNP: rs761399728
rs761399728
GNB5
6 0.851 0.040 15 52153947 missense variant G/A snv 5.6E-05 7.0E-06 0.700 0
dbSNP: rs773685207
rs773685207
MED13
6 0.851 0.200 17 61966645 stop gained G/A;C;T snv 4.3E-06; 4.3E-05 0.700 0
dbSNP: rs776300630
rs776300630
HIVEP1
4 0.925 0.080 6 12123884 missense variant G/C;T snv 8.0E-06 0.700 0
dbSNP: rs786205019
rs786205019
MECP2
2 0.925 0.120 X 154030644 splice acceptor variant CTCTCGGGCTCAGGTGGAGGT/TGCTCAAGTCCTGGGGCTCAG mnv 0.700 0
dbSNP: rs869312705
rs869312705
CHD2
3 0.882 0.080 15 92953405 frameshift variant C/- delins 0.700 0
dbSNP: rs182420
rs182420
LINC01595
2 1.000 0.040 19 47868938 upstream gene variant C/T snv 0.80 0.010 < 0.001 1 2017 2017
dbSNP: rs3693
rs3693
CYFIP1 ; NIPA2
1 1.000 0.040 15 22868175 3 prime UTR variant T/G snv 0.39 0.010 < 0.001 1 2019 2019
dbSNP: rs4818
rs4818
COMT ; MIR4761
27 0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 0.010 < 0.001 1 2013 2013
dbSNP: rs5320
rs5320
DBH
3 0.882 0.120 9 133642351 missense variant G/A snv 6.7E-02 8.5E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs6318
rs6318
HTR2C ; LOC105373313
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 < 0.001 1 2003 2003
dbSNP: rs7403703
rs7403703 		1 1.000 0.040 15 87839033 intergenic variant A/G snv 0.49 0.010 < 0.001 1 2010 2010
dbSNP: rs324981
rs324981
NPSR1 ; NPSR1-AS1
18 0.724 0.320 7 34778501 missense variant A/T snv 0.44 0.47 0.020 0.500 2 2014 2015
dbSNP: rs1051312
rs1051312
SNAP25 ; SNAP25-AS1
5 0.827 0.120 20 10306440 3 prime UTR variant T/C snv 0.20 0.030 0.667 3 2007 2013