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: rs771578775
rs771578775
COQ8A
3 1.000 0.080 1 226982996 stop gained C/T snv 4.5E-05 5.6E-05 0.020 0.500 2 2010 2012
dbSNP: rs1057518011
rs1057518011
TMEM240
4 1 1535766 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs587777004
rs587777004
HNRNPU ; COX20
3 1.000 0.080 1 244842055 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs767181086
rs767181086
LAMC2
11 0.827 0.240 1 183220922 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs886041761
rs886041761
KCNA2
6 0.925 0.200 1 110603902 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057518821
rs1057518821
SLC2A1
5 1.000 1 42930671 frameshift variant -/C delins 0.700 0
dbSNP: rs137853066
rs137853066
KCNJ10
7 0.827 0.320 1 160042339 missense variant C/G;T snv 8.0E-06 0.700 0
dbSNP: rs1320457487
rs1320457487
SLC3A1
3 1.000 0.120 2 44301057 missense variant G/A snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1424215334
rs1424215334
SLC3A1
3 1.000 0.120 2 44280805 missense variant A/G snv 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs200248046
rs200248046
SLC3A1
3 1.000 0.120 2 44299998 missense variant G/A;C snv 4.0E-06; 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs387906799
rs387906799
KIF1A
19 0.742 0.200 2 240788118 missense variant G/A snv 0.700 0
dbSNP: rs143319805
rs143319805
OPA1
12 0.807 0.320 3 193643378 missense variant A/G snv 6.2E-04 5.7E-04 0.010 1.000 1 2016 2016
dbSNP: rs148156462
rs148156462
COQ2
3 0.925 0.080 4 83264287 missense variant A/G snv 4.2E-03 1.6E-03 0.010 1.000 1 2015 2015
dbSNP: rs119456965
rs119456965
SIL1
3 1.000 0.080 5 139050960 stop gained G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs373893038
rs373893038
TRIO
1 5 14387508 missense variant C/T snv 8.0E-06 4.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs531630376
rs531630376
PCDH12
4 1.000 0.080 5 141955844 stop gained C/A snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1043679457
rs1043679457
ERCC8
33 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
dbSNP: rs1561515242
rs1561515242
CAMK4
6 1.000 0.080 5 111482938 splice donor variant G/A snv 0.700 0
dbSNP: rs1057518796
rs1057518796
SYNGAP1
3 1.000 6 33443751 frameshift variant C/- delins 0.700 0
dbSNP: rs145465528
rs145465528
LAMA2
7 0.882 0.240 6 129143976 missense variant C/T snv 6.0E-05 9.1E-05 0.700 0
dbSNP: rs1554768245
rs1554768245
SYNE1
16 0.807 0.160 6 152472395 frameshift variant C/- delins 0.700 0
dbSNP: rs774214806
rs774214806
GRM1
2 1.000 6 146159536 stop gained C/A;T snv 1.6E-05 0.700 0
dbSNP: rs375244209
rs375244209
HSPB1
2 1.000 0.040 7 76302870 missense variant G/A snv 1.1E-05 0.700 0
dbSNP: rs58982919
rs58982919
NEFL
10 0.790 0.080 8 24956223 missense variant T/C snv 0.020 1.000 2 2016 2017
dbSNP: rs181109321
rs181109321
TTPA
17 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.010 1.000 1 1999 1999