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: rs1131692270
rs1131692270
POGZ
2 1.000 0.160 1 151412327 missense variant T/C snv 0.700 0
dbSNP: rs869312692
rs869312692
DDX3X
2 1.000 X 41343291 stop gained C/T snv 0.700 0
dbSNP: rs1057519440
rs1057519440
GSPT2
3 1.000 0.040 X 51744647 missense variant G/A snv 0.700 0
dbSNP: rs121917915
rs121917915
SCN1A ; SCN1A-AS1 ; LOC102724058
3 1.000 0.040 2 165994176 missense variant C/A snv 0.700 0
dbSNP: rs777843533
rs777843533
ZMIZ1
3 0.925 0.160 10 79307487 frameshift variant -/C delins 0.700 0
dbSNP: rs869312672
rs869312672
SMC3
3 0.925 0.200 10 110577847 missense variant G/A snv 0.700 0
dbSNP: rs869312678
rs869312678
TCF20
3 0.925 0.160 22 42209920 frameshift variant CA/- delins 0.700 0
dbSNP: rs869312693
rs869312693
DYNC1H1
3 0.925 0.080 14 102034135 missense variant C/T snv 0.700 0
dbSNP: rs869312700
rs869312700
FOXG1
3 0.925 0.200 14 28768100 missense variant G/A snv 0.700 0
dbSNP: rs869312712
rs869312712
ARID1B
3 0.925 0.360 6 157084866 stop gained C/T snv 0.700 0
dbSNP: rs869312877
rs869312877
CHD2
3 0.925 0.160 15 92997299 frameshift variant -/G delins 0.700 0
dbSNP: rs1447313633
rs1447313633
ZNF142
4 1.000 2 218649090 frameshift variant TT/- del 0.700 1.000 1 2019 2019
dbSNP: rs1553798675
rs1553798675
FGF12
4 0.925 0.080 3 192335441 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1554434435
rs1554434435
CAMK2B
4 1.000 7 44284206 stop gained G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1554904772
rs1554904772
BRSK2
4 0.882 0.280 11 1443490 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1559296368
rs1559296368
ZNF142
4 1.000 2 218646330 frameshift variant C/- del 0.700 1.000 1 2019 2019
dbSNP: rs878853169
rs878853169
NBEA
4 1.000 0.160 13 35550528 stop gained C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs1085307451
rs1085307451
DHX30 ; MIR1226
4 0.925 0.160 3 47848246 missense variant C/T snv 0.700 0
dbSNP: rs147682682
rs147682682
MITF
4 1.000 0.040 3 69956496 stop gained G/A;T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs1554121671
rs1554121671
SYNGAP1
4 1.000 6 33440746 frameshift variant -/AGGA delins 0.700 0
dbSNP: rs1555013332
rs1555013332
SHANK2
4 0.882 0.160 11 70661635 frameshift variant -/T delins 0.700 0
dbSNP: rs1555247805
rs1555247805
MED13L
4 0.925 0.160 12 116008442 frameshift variant A/- del 0.700 0
dbSNP: rs1565091862
rs1565091862
KCNMA1 ; KCNMA1-AS1
4 0.925 0.160 10 76944829 missense variant T/C snv 0.700 0
dbSNP: rs534517447
rs534517447
GRIK4 ; LOC101929208
4 0.925 0.160 11 120956935 missense variant G/A snv 2.9E-05 7.0E-06 0.700 0
dbSNP: rs752738546
rs752738546
DDX3X
4 1.000 X 41343802 stop gained G/A;T snv 5.6E-06 0.700 0