Source: CURATED ×
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: rs1060499759
rs1060499759
ATRX
2 1.000 X 77688879 missense variant A/T snv 0.700 0
dbSNP: rs1060499760
rs1060499760
ATRX
2 1.000 X 77683580 missense variant G/A snv 0.700 0
dbSNP: rs1114167294
rs1114167294
FOXP4
4 0.925 6 41587455 frameshift variant T/- del 0.700 0
dbSNP: rs1135402758
rs1135402758
NUP214
5 1.000 9 131199023 intron variant T/- delins 0.700 0
dbSNP: rs1200336864
rs1200336864
TASP1
1 1.000 20 13625199 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs1277383877
rs1277383877
PIGT
3 0.925 20 45421428 missense variant G/T snv 7.0E-06 0.700 0
dbSNP: rs1325951163
rs1325951163
BRAF
1 1.000 7 140801517 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs144900171
rs144900171
SYT1
5 0.925 12 79448968 missense variant C/G;T snv 1.3E-04 6.2E-04 0.700 0
dbSNP: rs1553920383
rs1553920383
PPP3CA
3 0.925 4 101032350 frameshift variant TC/- delins 0.700 0
dbSNP: rs1554121671
rs1554121671
SYNGAP1
4 1.000 6 33440746 frameshift variant -/AGGA delins 0.700 0
dbSNP: rs1554776954
rs1554776954
STXBP1
5 1.000 9 127661133 frameshift variant A/- delins 0.700 0
dbSNP: rs1555928716
rs1555928716
RPS6KA3
7 0.925 X 20167669 stop gained G/A snv 0.700 0
dbSNP: rs1558519731
rs1558519731
BCL11A
4 0.925 2 60546204 missense variant C/G snv 0.700 0
dbSNP: rs1560212751
rs1560212751
DOCK3
2 1.000 3 51208772 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1560414254
rs1560414254
DOCK3
2 1.000 3 51312486 frameshift variant ACTT/- delins 0.700 0
dbSNP: rs1564069651
rs1564069651
AGTPBP1
2 1.000 9 85619123 missense variant T/C snv 0.700 0
dbSNP: rs1564493599
rs1564493599
TRPM3 ; LOC101927086
3 1.000 9 70598463 missense variant C/T snv 0.700 0
dbSNP: rs1565922388
rs1565922388
SYT1
5 0.925 12 79353599 missense variant T/A snv 0.700 0
dbSNP: rs1565922395
rs1565922395
SYT1
5 0.925 12 79353602 missense variant A/G snv 0.700 0
dbSNP: rs1565962725
rs1565962725
SYT1
5 0.925 12 79448953 missense variant C/A snv 0.700 0
dbSNP: rs1567010427
rs1567010427
DYNC1H1
11 0.882 14 102010824 missense variant G/A snv 0.700 0
dbSNP: rs1569097392
rs1569097392
SHANK3
2 1.000 22 50676625 stop gained C/T snv 0.700 0
dbSNP: rs1569513017
rs1569513017
ATRX
1 1.000 X 77508625 frameshift variant A/- del 0.700 0
dbSNP: rs1569547876
rs1569547876
MAGT1
4 1.000 X 77841252 stop gained G/A snv 0.700 0
dbSNP: rs373260156
rs373260156
MAGT1
3 1.000 X 77830825 missense variant T/C;G snv 1.2E-05 0.700 0