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: rs1553920379
rs1553920379
PPP3CA
27 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
dbSNP: rs1043614377
rs1043614377
CNNM2
2 1.000 0.040 10 103049727 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1562159088
rs1562159088
WASF1
2 1.000 0.040 6 110100644 stop gained G/A snv 0.700 0
dbSNP: rs786205232
rs786205232
KCNA2
5 0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs886041874
rs886041874
PHGDH
2 1.000 0.040 1 119721323 splice donor variant T/C snv 4.0E-06 0.700 0
dbSNP: rs764618040
rs764618040
PHGDH ; LOC105378936
2 1.000 0.040 1 119726868 missense variant C/T snv 1.6E-05 2.1E-05 0.700 0
dbSNP: rs587776508
rs587776508
CDK2AP1 ; C12orf65
4 0.882 0.040 12 123253922 frameshift variant T/- del 4.0E-06 0.700 0
dbSNP: rs1057519538
rs1057519538
STXBP1
1 1.000 0.040 9 127651622 inframe deletion AAA/- del 0.700 0
dbSNP: rs1057518985
rs1057518985
STXBP1
1 1.000 0.040 9 127673233 missense variant C/A;T snv 0.700 0
dbSNP: rs796053366
rs796053366
STXBP1
2 0.925 0.040 9 127673250 stop gained C/T snv 0.700 0
dbSNP: rs796053367
rs796053367
STXBP1
2 0.925 0.040 9 127675909 missense variant C/T snv 0.700 0
dbSNP: rs1057519539
rs1057519539
STXBP1
1 1.000 0.040 9 127678479 stop gained G/A;T snv 0.700 0
dbSNP: rs1057519537
rs1057519537
STXBP1
1 1.000 0.040 9 127682423 stop gained G/A snv 0.700 0
dbSNP: rs869312702
rs869312702
DNM1 ; CIZ1
10 0.827 0.160 9 128203609 missense variant G/A snv 0.700 0
dbSNP: rs796053335
rs796053335
SPTAN1
1 1.000 0.040 9 128632280 protein altering variant -/GCATGC delins 0.700 0
dbSNP: rs121909323
rs121909323
CACNA1A
8 0.790 0.160 19 13277122 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs786200962
rs786200962
CACNA1A
7 0.827 0.120 19 13298768 frameshift variant A/- del 0.700 1.000 1 2015 2015
dbSNP: rs1064794262
rs1064794262
CACNA1A
3 0.925 0.040 19 13303831 frameshift variant CT/- del 0.700 0
dbSNP: rs28934908
rs28934908
MECP2
23 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.010 1.000 1 2007 2007
dbSNP: rs587777308
rs587777308
GABRA1
14 0.763 0.040 5 161873196 missense variant G/A snv 0.020 1.000 2 2016 2019
dbSNP: rs727503940
rs727503940
GABRA1
1 1.000 0.040 5 161882638 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs796052491
rs796052491
GABRA1
4 0.851 0.040 5 161890982 missense variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs1060499553
rs1060499553
GABRA1
6 0.827 0.040 5 161890983 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs796052493
rs796052493
GABRA1
4 0.851 0.040 5 161895668 missense variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs747138999
rs747138999
GABRA1
2 1.000 0.040 5 161895753 missense variant G/T snv 0.010 1.000 1 2019 2019