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: rs34757931
rs34757931
VPS11
26 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.710 1.000 1 2016 2016
dbSNP: rs1555228665
rs1555228665
SCN8A
4 0.882 0.080 12 51788702 missense variant T/C snv 0.700 0
dbSNP: rs1562931936
rs1562931936
KMT2E
5 1.000 7 105107527 stop gained C/T snv 0.700 0
dbSNP: rs201430951
rs201430951
NUBPL
7 0.925 0.040 14 31599308 missense variant T/C snv 1.5E-04 5.6E-05 0.700 0
dbSNP: rs113994049
rs113994049
EIF2B5
4 0.882 0.160 3 184137637 missense variant G/A snv 2.1E-04 2.7E-04 0.020 1.000 2 2004 2008
dbSNP: rs886044717
rs886044717
KCNT1
3 0.925 0.040 9 135779423 missense variant T/A snv 0.020 1.000 2 2014 2017
dbSNP: rs113994096
rs113994096
POLG
8 0.827 0.080 15 89325639 missense variant G/A snv 1.5E-03 1.6E-03 0.010 1.000 1 2003 2003
dbSNP: rs1181554646
rs1181554646
AARS2
1 6 44311393 stop gained A/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs184607650
rs184607650
EIF2B4
2 1.000 0.080 2 27367140 missense variant G/C snv 5.1E-04 4.7E-04 0.010 1.000 1 2008 2008
dbSNP: rs199422224
rs199422224
NDUFS1
2 1.000 2 206145009 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs200105202
rs200105202
AARS2
1 6 44311148 missense variant G/A snv 8.8E-05 7.0E-05 0.010 1.000 1 2017 2017
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2298383
rs2298383
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
11 0.827 0.200 22 24429543 non coding transcript exon variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs368243788
rs368243788
EIF2B4 ; SNX17
2 1.000 0.080 2 27368724 missense variant C/A;T snv 4.0E-06; 2.0E-04 0.010 1.000 1 2008 2008
dbSNP: rs587777623
rs587777623
DEAF1
8 0.882 0.120 11 686986 missense variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs757982865
rs757982865
IK ; NDUFA2 ; TMCO6 ; MIR3655
1 5 140647330 missense variant T/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs763868966
rs763868966
GFAP
4 1.000 0.080 17 44911429 stop gained C/A;G;T snv 1.2E-05; 4.0E-05 0.010 1.000 1 2015 2015