Source: CURATED ×
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: rs12059546
rs12059546
CHRM3
1 0.925 0.040 1 239806797 intron variant A/G snv 0.30 0.800 1.000 1 2012 2012
dbSNP: rs1394074
rs1394074
OLFML3
1 1.000 0.040 1 114005041 intron variant C/G snv 2.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs141860749
rs141860749
SYT2
2 1.000 0.040 1 202668176 intron variant C/A snv 2.7E-04 0.700 1.000 1 2015 2015
dbSNP: rs1558005340
rs1558005340
ATP1A2
4 0.851 0.280 1 160127638 frameshift variant C/- del 0.700 1.000 1 2020 2020
dbSNP: rs1558008455
rs1558008455
ATP1A2
4 0.851 0.280 1 160135284 frameshift variant GT/- delins 0.700 1.000 1 2020 2020
dbSNP: rs2292096
rs2292096
CAMSAP2
1 0.925 0.040 1 200857641 3 prime UTR variant A/G snv 0.14 0.810 1.000 1 2012 2013
dbSNP: rs771390
rs771390
LOC105378639
1 1.000 0.040 1 34285335 intergenic variant T/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs121913578
rs121913578
MTR
5 0.851 0.280 1 236895470 missense variant C/T snv 6.4E-05 8.4E-05 0.700 0
dbSNP: rs192669225
rs192669225
AMPD2
3 0.925 0.040 1 109628692 missense variant G/A snv 0.700 0
dbSNP: rs730882203
rs730882203
DMBX1
6 0.851 0.080 1 46510953 missense variant C/T snv 0.700 0
dbSNP: rs730882223
rs730882223
TSEN15
4 0.851 0.120 1 184054736 missense variant T/G snv 0.700 0
dbSNP: rs80359826
rs80359826
SLC2A1
6 0.807 0.120 1 42929018 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs10496964
rs10496964 		1 0.925 0.040 2 144602342 intergenic variant C/T snv 0.12 0.800 1.000 1 2012 2012
dbSNP: rs13026414
rs13026414
LOC101927235 ; LOC105377632
1 1.000 0.040 2 57706920 intergenic variant C/T snv 0.29 0.800 1.000 1 2012 2012
dbSNP: rs2717068
rs2717068 		1 1.000 0.040 2 57867738 intergenic variant A/C snv 0.70 0.800 1.000 1 2012 2012
dbSNP: rs4671319
rs4671319
LOC105374697
1 1.000 0.040 2 57723211 intergenic variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs6432877
rs6432877
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166142257 intron variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs6732655
rs6732655
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166038556 intron variant A/T snv 0.74 0.700 1.000 1 2014 2014
dbSNP: rs796053124
rs796053124
SCN2A
4 0.882 0.080 2 165354232 missense variant G/T snv 0.700 1.000 1 2010 2010
dbSNP: rs1553456695
rs1553456695
NR4A2
1 1.000 0.040 2 156329859 frameshift variant -/C delins 0.700 0
dbSNP: rs730882212
rs730882212
TUBA3E
4 0.851 0.120 2 130194199 missense variant G/A snv 7.2E-05; 4.0E-06 4.2E-05 0.700 0
dbSNP: rs111577701
rs111577701 		1 1.000 0.040 3 168143620 intergenic variant C/T snv 0.13 0.700 1.000 1 2014 2014
dbSNP: rs62270313
rs62270313
EPHB1
2 1.000 0.040 3 134930924 intron variant T/C snv 0.16 0.700 1.000 1 2015 2015
dbSNP: rs9833158
rs9833158
LOC105377641
1 1.000 0.040 3 16742882 intergenic variant G/A snv 0.53 0.700 1.000 1 2019 2019
dbSNP: rs730882229
rs730882229
PTPN23
3 0.882 0.040 3 47411889 missense variant G/A;T snv 8.0E-06 0.700 0