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: rs1057518011
rs1057518011
TMEM240
4 1 1535766 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1269252748
rs1269252748
VLDLR ; VLDLR-AS1
4 9 2641436 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs1318256630
rs1318256630
SPTBN2
2 11 66708251 missense variant G/A snv 4.1E-06 0.010 1.000 1 2018 2018
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: rs770684782
rs770684782
SETX
3 9 132288268 stop gained G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1057518796
rs1057518796
SYNGAP1
3 1.000 6 33443751 frameshift variant C/- delins 0.700 0
dbSNP: rs1057518821
rs1057518821
SLC2A1
5 1.000 1 42930671 frameshift variant -/C delins 0.700 0
dbSNP: rs149595793
rs149595793
DLG3
3 1.000 X 70492544 missense variant G/A snv 3.3E-05 6.6E-05 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: rs1555889162
rs1555889162
KCNB1 ; LOC105372649
6 0.882 0.040 20 49374931 missense variant G/A;C snv 0.700 1.000 2 2017 2017
dbSNP: rs1208917022
rs1208917022
ATN1
3 1.000 0.040 12 6936663 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs1554943158
rs1554943158
DEAF1
6 0.882 0.040 11 681045 inframe deletion CTT/- delins 0.700 1.000 1 2017 2017
dbSNP: rs755221106
rs755221106
CACNA1G
7 0.851 0.040 17 50617560 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2020 2020
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: 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: 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: rs121908214
rs121908214
CACNA1A
4 0.925 0.080 19 13230185 missense variant T/G snv 0.010 1.000 1 1998 1998
dbSNP: rs121908224
rs121908224
CACNA1A
2 1.000 0.080 19 13235262 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs121908230
rs121908230
CACNA1A
5 0.882 0.080 19 13262789 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs121918514
rs121918514
PRKCG
4 0.925 0.080 19 53889705 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs121918518
rs121918518
PRKCG
3 1.000 0.080 19 53889655 missense variant C/G snv 0.010 1.000 1 2005 2005
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: rs2307441
rs2307441
POLG
6 0.882 0.080 15 89318595 missense variant T/C snv 2.9E-02 2.7E-02 0.010 1.000 1 2010 2010
dbSNP: rs267607044
rs267607044
SETX
3 1.000 0.080 9 132327718 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2006 2006