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: rs550423482
rs550423482
PNPO
5 0.923 0.143 17 47946670 missense variant G/A,T snp 4.0E-05 3.2E-05 0.710 1.000 1 2014 2014
dbSNP: rs796053124
rs796053124
SCN2A
4 0.923 0.071 2 165354232 missense variant G/T snp 0.700 2 2010 2015
dbSNP: rs1057518843
rs1057518843
GALC
18 0.821 0.179 14 87988523 missense variant C/T snp 0.700 1 2015 2015
dbSNP: rs1057518887
rs1057518887
SEPSECS
7 0.923 0.143 4 25156851 splice region variant C/T snp 0.700 1 2015 2015
dbSNP: rs1057518921
rs1057518921
MED12
7 X 71132465 missense variant G/A snp 0.700 1 2015 2015
dbSNP: rs1057518932
rs1057518932
EFTUD2
2 17 44855003 missense variant T/A snp 0.700 1 2015 2015
dbSNP: rs1057518961
rs1057518961
DYNC1H1
5 1.000 0.036 14 102012450 missense variant C/T snp 0.700 1 2015 2015
dbSNP: rs1057518963
rs1057518963
OPHN1
6 0.846 0.179 X 68210239 missense variant A/G snp 0.700 1 2015 2015
dbSNP: rs1060499740
rs1060499740
CINP
3 14 102348559 stop lost A/C snp 0.700 1 2016 2016
dbSNP: rs1060503428
rs1060503428
SPG7
10 0.821 0.107 16 89546662 inframe deletion AGGCGGGAGA/A in-del 0.700 1 2015 2015
dbSNP: rs1064795760
rs1064795760
BICD2
14 0.878 0.143 9 92719007 inframe deletion CATT/C in-del 0.700 1 2015 2015
dbSNP: rs1114167301
rs1114167301
GRM7
6 1.000 0.071 3 7578930 missense variant C/A,T snp 4.0E-06 0.700 1 2017 2017
dbSNP: rs118192212
rs118192212
KCNQ2
2 1.000 20 63439613 inframe deletion AGAA/A in-del 0.700 1 2015 2015
dbSNP: rs118203707
rs118203707
TSC1
5 0.923 0.107 9 132900829 frameshift variant TGTTT/T in-del 0.700 1 2015 2015
dbSNP: rs121434616
rs121434616
CUL4B
6 1.000 0.071 X 120544179 stop gained G/A snp 0.700 1 2015 2015
dbSNP: rs121912708
rs121912708
ALDH7A1
3 1.000 0.036 5 126583997 stop gained G/A,C snp 6.0E-05; 4.0E-06 9.6E-05 0.700 1 2015 2015
dbSNP: rs121917915
rs121917915
SCN1A ; LOC102724058
4 0.923 0.036 2 165994176 missense variant C/A snp 0.700 1 2015 2015
dbSNP: rs121918736
rs121918736
SCN1A
2 1.000 0.036 2 166037907 missense variant G/A snp 0.700 1 2015 2015
dbSNP: rs121918751
rs121918751
SCN1A ; LOC102724058
2 1.000 0.036 2 165991841 missense variant A/C snp 0.700 1 2015 2015
dbSNP: rs137939966
rs137939966
MYOCD
2 17 12752540 missense variant A/G snp 1.6E-04 7.3E-04 0.700 1 2015 2015
dbSNP: rs140845195
rs140845195
ALDH7A1
3 1.000 0.036 5 126545020 splice acceptor variant C/A,T snp 1.6E-05; 4.0E-06 0.700 1 2015 2015
dbSNP: rs192669225
rs192669225
AMPD2
3 1 109628692 missense variant G/A snp 0.700 1 2015 2015
dbSNP: rs199722402
rs199722402
INO80
3 1.000 0.107 15 40987186 missense variant C/T snp 3.1E-04 7.0E-04 0.700 1 2015 2015
dbSNP: rs372292910
rs372292910
PCDHB4
3 5 141122913 frameshift variant AA/A in-del 0.700 1 2015 2015
dbSNP: rs374319146
rs374319146
TBCK
5 1.000 4 106194717 splice donor variant C/A,T snp 4.3E-06; 8.7E-06 3.2E-05 0.700 1 2015 2015