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: rs1555582065
rs1555582065
UBTF ; LOC101926967
13 0.827 0.160 17 44212851 missense variant C/T snv 0.700 0
dbSNP: rs1560092224
rs1560092224
ZBTB20
5 0.925 0.040 3 114339276 missense variant T/A snv 0.700 0
dbSNP: rs1564365418
rs1564365418
GRIN1
5 0.882 0.120 9 137163846 missense variant G/T snv 0.700 0
dbSNP: rs1569110700
rs1569110700
TCF20
5 0.925 0.080 22 42179633 missense variant G/A snv 0.700 0
dbSNP: rs1569485503
rs1569485503
NLGN3
2 1.000 0.040 X 71167697 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
dbSNP: rs28935468
rs28935468
MECP2
17 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
dbSNP: rs372392424
rs372392424
PIGG
8 0.882 0.240 4 523849 missense variant C/T snv 6.7E-05 7.7E-05 0.700 0
dbSNP: rs387906686
rs387906686
SCN2A
23 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
dbSNP: rs529855742
rs529855742
SGSH
15 0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 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: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.700 0
dbSNP: rs727504031
rs727504031
NDP ; NDP-AS1
3 0.925 0.200 X 43949981 missense variant G/A snv 0.700 0
dbSNP: rs752134549
rs752134549
RSRC2
6 0.827 0.200 12 122517404 missense variant C/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs762713626
rs762713626
TBR1
2 1.000 0.040 2 161420222 missense variant C/G;T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs786204858
rs786204858
PTEN
11 0.776 0.280 10 87933079 missense variant A/G;T snv 0.700 0
dbSNP: rs863225094
rs863225094
PPP2R1A
10 0.827 0.160 19 52213076 missense variant G/A snv 0.700 0
dbSNP: rs869312671
rs869312671
MTOR ; MTOR-AS1
5 0.882 0.160 1 11144735 missense variant C/T snv 0.700 0
dbSNP: rs869312686
rs869312686
HCFC1
5 0.882 0.120 X 153952053 missense variant G/C;T snv 0.700 0
dbSNP: rs878853165
rs878853165
MAST1 ; HOOK2
6 0.882 0.200 19 12843558 missense variant C/T snv 0.700 0
dbSNP: rs879255530
rs879255530
FOXG1
2 0.925 0.160 14 28767832 missense variant A/T snv 0.700 0
dbSNP: rs886039903
rs886039903
FGF12
6 0.807 0.200 3 192335434 missense variant C/T snv 0.700 0
dbSNP: rs1554904159
rs1554904159
BRSK2 ; LOC107984298
11 0.851 0.160 11 1442607 splice donor variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1555649483
rs1555649483
BPTF
12 0.851 0.200 17 67909751 splice donor variant GAAGGACCAAGG/- del 0.700 1.000 1 2017 2017
dbSNP: rs1554893835
rs1554893835
PTEN
8 0.827 0.240 10 87894110 splice donor variant G/C;T snv 0.700 0