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: rs1009298200
rs1009298200
ALG1
34 0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 0.700 0
dbSNP: rs1060505029
rs1060505029
TAF13
5 0.882 0.240 1 109066220 missense variant A/T snv 0.700 0
dbSNP: rs1060505030
rs1060505030
TAF13
4 0.882 0.240 1 109075001 missense variant A/G;T snv 0.700 0
dbSNP: rs11555217
rs11555217
DHCR7
5 0.882 0.160 11 71441401 stop gained C/G;T snv 7.7E-04 0.700 0
dbSNP: rs119473033
rs119473033
SMARCAL1
11 0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04 0.700 0
dbSNP: rs12720458
rs12720458
KCNQ1
20 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 0
dbSNP: rs137854889
rs137854889
ZMPSTE24
31 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs1555321402
rs1555321402
FOXG1
3 0.925 0.240 14 28768345 frameshift variant T/- delins 0.700 0
dbSNP: rs1555452127
rs1555452127
ALG1
34 0.742 0.400 16 5079078 missense variant T/C snv 0.700 0
dbSNP: rs1555975523
rs1555975523
CASK
5 0.851 0.200 X 41534892 splice donor variant C/AT delins 0.700 0
dbSNP: rs1564341846
rs1564341846
POMT1
8 0.790 0.280 9 131508926 missense variant C/A snv 0.700 0
dbSNP: rs199422151
rs199422151
ASPM
4 0.882 0.120 1 197125190 stop gained G/A;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs199422152
rs199422152
ASPM
4 0.882 0.120 1 197125161 stop gained C/T snv 0.700 0
dbSNP: rs199422173
rs199422173
ASPM
7 0.827 0.120 1 197101468 frameshift variant CT/- delins 2.3E-04 1.7E-04 0.700 0
dbSNP: rs199422202
rs199422202
CENPJ
5 0.851 0.120 13 24913008 frameshift variant G/- delins 0.700 0
dbSNP: rs201111299
rs201111299
CENPJ
4 0.882 0.240 13 24906906 stop gained G/A snv 8.4E-05 9.1E-05 0.700 0
dbSNP: rs369160589
rs369160589
ALG1
35 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
dbSNP: rs377510027
rs377510027
DARS1
6 0.827 0.240 2 135911447 missense variant A/G snv 1.2E-05 0.700 0
dbSNP: rs587783772
rs587783772
MTM1
14 0.776 0.200 X 150659665 missense variant G/A;T snv 0.700 0
dbSNP: rs727503786
rs727503786
ABCD1
6 0.827 0.280 X 153736231 missense variant C/A;G;T snv 1.6E-05 0.700 0
dbSNP: rs748106387
rs748106387
SMARCAL1
9 0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05 0.700 0
dbSNP: rs750195040
rs750195040
POMT1
12 0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 0.700 0
dbSNP: rs759188041
rs759188041
CENPJ
4 0.882 0.240 13 24912736 frameshift variant -/T delins 3.2E-05 3.5E-05 0.700 0
dbSNP: rs775277800
rs775277800
RTTN
4 0.851 0.120 18 70166989 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs779896782
rs779896782
DHCR7
5 0.882 0.160 11 71439055 missense variant A/C;G snv 8.0E-06 0.700 0