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: rs762879329
rs762879329
SLC18A2
1 10 117255281 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs1060499735
rs1060499735
CPLX1 ; LOC105374339
2 1.000 4 786584 stop gained C/A snv 0.700 0
dbSNP: rs1060499756
rs1060499756
AP4B1 ; AP4B1-AS1
1 1 113897860 stop gained C/A snv 0.700 0
dbSNP: rs1060499774
rs1060499774
GRIP1
1 12 66455465 missense variant C/A snv 0.700 0
dbSNP: rs746382157
rs746382157
MTO1
1 6 73500589 missense variant C/A snv 4.4E-05 7.0E-06 0.700 0
dbSNP: rs767983680
rs767983680
CACNA1H
1 16 1204058 missense variant C/A;G snv 1.9E-05 0.700 0
dbSNP: rs267606826
rs267606826
FOXG1
38 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
dbSNP: rs375131638
rs375131638
TTI1
1 20 37999220 missense variant C/A;T snv 1.1E-05 0.700 0
dbSNP: rs548986682
rs548986682
ZNF423
1 16 49635782 stop gained C/A;T snv 3.2E-05 0.700 0
dbSNP: rs761815070
rs761815070
PLA2G6
2 1.000 0.040 22 38129453 splice donor variant C/A;T snv 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs121918104
rs121918104
PSAP
3 0.925 0.120 10 71825892 missense variant C/G snv 0.700 1.000 1 2009 2009
dbSNP: rs1060499772
rs1060499772
DARS1
1 2 135943412 missense variant C/G snv 0.700 0
dbSNP: rs139912214
rs139912214
STIL
1 1 47281003 missense variant C/G snv 2.2E-03 1.9E-03 0.700 0
dbSNP: rs200361128
rs200361128
SOX3
2 1.000 0.040 X 140504904 missense variant C/G snv 7.4E-03 4.0E-03 0.700 0
dbSNP: rs369348360
rs369348360
STIL
1 1 47282367 missense variant C/G snv 2.0E-05 2.1E-05 0.700 0
dbSNP: rs201257588
rs201257588
TBC1D24
9 0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05 0.700 1.000 2 2014 2014
dbSNP: rs773850151
rs773850151
FBXL4
2 1.000 6 98899353 missense variant C/G;T snv 8.0E-06 0.700 1.000 2 2015 2017
dbSNP: rs1060499745
rs1060499745
CDK10
1 16 89694721 missense variant C/G;T snv 5.1E-06 0.700 0
dbSNP: rs1060499746
rs1060499746
GTF3C1
1 16 27481179 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs138686233
rs138686233
ASTN1
1 1 176945951 missense variant C/G;T snv 4.2E-04 0.700 0
dbSNP: rs372628779
rs372628779
KANK1
1 9 732609 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs61743088
rs61743088
ROS1
1 6 117394232 missense variant C/G;T snv 1.5E-03; 8.1E-06 0.700 0
dbSNP: rs759222737
rs759222737
DSCAML1
1 11 117518745 missense variant C/G;T snv 8.2E-06; 2.5E-05 0.700 0
dbSNP: rs398122965
rs398122965
TBC1D24
13 0.807 0.280 16 2496872 missense variant C/T snv 1.2E-05 2.8E-05 0.700 1.000 2 2014 2014
dbSNP: rs398122966
rs398122966
TBC1D24
9 0.882 0.280 16 2496266 missense variant C/T snv 8.0E-06 0.700 1.000 2 2014 2014