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: rs114638163
rs114638163
MIPEP
10 0.827 0.240 13 23805994 stop gained C/A;T snv 4.0E-06; 1.3E-03 0.700 1.000 1 2016 2016
dbSNP: rs1555703272
rs1555703272
SLC25A10
4 0.925 0.080 17 81715568 stop gained A/T snv 0.700 1.000 1 2018 2018
dbSNP: rs387906799
rs387906799
KIF1A
19 0.742 0.200 2 240788118 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs398122394
rs398122394
ALG13
17 0.763 0.240 X 111685040 missense variant A/G snv 0.700 1.000 1 2013 2013
dbSNP: rs752746786
rs752746786
GNB1
30 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs797045164
rs797045164
KIF1A
8 0.851 0.120 2 240785063 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs869312821
rs869312821
GNB1
7 0.882 0.120 1 1806515 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs869312823
rs869312823
GNB1
9 0.882 0.080 1 1806509 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1009298200
rs1009298200
ALG1
34 0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 0.700 0
dbSNP: rs1060503383
rs1060503383
SYNGAP1
14 0.882 0.200 6 33441318 stop gained C/T snv 0.700 0
dbSNP: rs1553621496
rs1553621496
UNC80
53 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
dbSNP: rs1554700678
rs1554700678
HNRNPK
4 0.925 0.080 9 83975466 missense variant C/T snv 0.700 0
dbSNP: rs1555452127
rs1555452127
ALG1
34 0.742 0.400 16 5079078 missense variant T/C snv 0.700 0
dbSNP: rs1556425596
rs1556425596
COL6A1
37 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
dbSNP: rs1565569158
rs1565569158
ATN1
4 12 6939148 missense variant A/G snv 0.700 0
dbSNP: rs1569518070
rs1569518070
COL6A1
33 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
dbSNP: rs201893408
rs201893408
TMEM67
28 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 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: rs587776625
rs587776625
ADGRG1
12 0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins 0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
22 0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 0.700 0
dbSNP: rs753611141
rs753611141
PMPCA
14 0.827 0.280 9 136418847 missense variant G/A;T snv 2.4E-05; 4.0E-06 0.700 0
dbSNP: rs768643552
rs768643552
PMPCA
13 0.851 0.240 9 136418630 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
57 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
dbSNP: rs879253767
rs879253767
SCN2A
6 0.882 0.080 2 165313738 frameshift variant T/- delins 0.700 0