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: rs764666741
rs764666741
AGBL2
1 11 47685934 stop gained G/A snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs72547568
rs72547568
ALDH3A2
2 1.000 0.120 17 19657797 missense variant G/A snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs1060499755
rs1060499755
ALDH7A1
1 5 126577158 missense variant T/C snv 0.700 0
dbSNP: rs1060499742
rs1060499742
ANK3
1 10 60071229 missense variant G/A snv 0.700 0
dbSNP: rs1060499756
rs1060499756
AP4B1 ; AP4B1-AS1
1 1 113897860 stop gained C/A snv 0.700 0
dbSNP: rs1060499771
rs1060499771
AP4B1 ; AP4B1-AS1
1 1 113900063 missense variant A/G snv 0.700 0
dbSNP: rs1060499743
rs1060499743
ARHGAP21
1 10 24596030 missense variant A/C snv 0.700 0
dbSNP: rs1557966012
rs1557966012
ASPM
2 1.000 0.120 1 197143564 frameshift variant C/- del 0.700 0
dbSNP: rs772050241
rs772050241
ASPM
2 1.000 0.120 1 197104402 stop gained G/A snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs138686233
rs138686233
ASTN1
1 1 176945951 missense variant C/G;T snv 4.2E-04 0.700 0
dbSNP: rs376997378
rs376997378
ASXL3
1 18 33742984 missense variant G/A snv 1.6E-05 0.700 0
dbSNP: rs1559122277
rs1559122277
BBS5
2 1.000 2 169488115 splice donor variant G/T snv 0.700 0
dbSNP: rs369432845
rs369432845
BCOR
1 X 40062275 missense variant G/A;T snv 4.4E-05 0.700 0
dbSNP: rs1057520918
rs1057520918
CACNA1A
11 0.790 0.160 19 13262780 missense variant C/T snv 0.700 0
dbSNP: rs767983680
rs767983680
CACNA1H
1 16 1204058 missense variant C/A;G snv 1.9E-05 0.700 0
dbSNP: rs775271588
rs775271588
CACNA1H
1 16 1220830 missense variant A/G snv 6.4E-05 1.4E-05 0.700 0
dbSNP: rs1553196101
rs1553196101
CDC42
8 0.925 0.080 1 22086507 missense variant T/C snv 0.700 0
dbSNP: rs1553196134
rs1553196134
CDC42
6 0.925 0.080 1 22086856 missense variant C/T snv 0.700 0
dbSNP: rs765815715
rs765815715
CDH4
1 20 61928394 missense variant G/A;C snv 2.0E-05 0.700 0
dbSNP: rs1060499745
rs1060499745
CDK10
1 16 89694721 missense variant C/G;T snv 5.1E-06 0.700 0
dbSNP: rs772157816
rs772157816
CDK10
1 16 89695679 missense variant G/A snv 9.0E-06 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: rs754025360
rs754025360
CDON
1 11 125961960 missense variant G/A;C snv 2.0E-05; 4.0E-06 0.700 0
dbSNP: rs1465414886
rs1465414886
CEP290
2 1.000 0.200 12 88118660 stop gained G/A;C snv 0.700 0
dbSNP: rs561598805
rs561598805
CEP290
2 1.000 0.200 12 88071860 stop gained G/A;T snv 2.1E-05; 5.5E-05 0.700 0