Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060501723
rs1060501723
STXBP1
1.000 0.040 9 127660048 frameshift variant A/- del
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 0
dbSNP: rs1554776948
rs1554776948
STXBP1
1.000 0.040 9 127661101 splice acceptor variant G/T snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 0
dbSNP: rs1060501724
rs1060501724
STXBP1
1.000 0.040 9 127661161 missense variant A/C snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 0
dbSNP: rs796053355
rs796053355
STXBP1
0.925 0.040 9 127663343 missense variant C/T snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 1.000 4 2013 2015
dbSNP: rs587784453
rs587784453
STXBP1
0.925 0.040 9 127666236 missense variant A/G snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 1.000 2 2015 2016
dbSNP: rs751170778
rs751170778
STXBP1
1.000 0.040 9 127668083 stop gained T/C;G snv 4.0E-06
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 0
dbSNP: rs587777310
rs587777310
STXBP1
0.925 0.040 9 127668132 missense variant G/A snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 0
dbSNP: rs796053361
rs796053361
STXBP1
0.925 0.040 9 127668160 missense variant G/A;T snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 1.000 3 2014 2017
dbSNP: rs796053366
rs796053366
STXBP1
0.925 0.040 9 127673250 stop gained C/T snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 1.000 2 2016 2016
dbSNP: rs886041246
rs886041246
STXBP1
0.925 0.040 9 127675910 missense variant G/A;T snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 1.000 4 2010 2015
dbSNP: rs1057522982
rs1057522982
STXBP1
1.000 0.040 9 127678429 splice acceptor variant A/G;T snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 0
dbSNP: rs1060501722
rs1060501722
STXBP1
1.000 0.040 9 127678505 stop gained G/A;C snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 0
dbSNP: rs796053368
rs796053368
STXBP1
0.925 0.040 9 127678510 missense variant C/T snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 0
dbSNP: rs1554769099
rs1554769099
SPTAN1
1.000 0.040 9 128632483 missense variant A/G snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 1.000 4 2016 2017
dbSNP: rs1553519872
rs1553519872
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165991521 frameshift variant A/- del
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 1.000 1 2016 2016
dbSNP: rs1553520029
rs1553520029
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165991678 missense variant T/C snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 1.000 1 2017 2017
dbSNP: rs1553520227
rs1553520227
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165992006 missense variant C/G snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 1.000 4 2009 2016
dbSNP: rs1553520318
rs1553520318
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165992101 missense variant C/T snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 0
dbSNP: rs1553520320
rs1553520320
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165992108 missense variant A/G snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 1.000 2 2009 2015
dbSNP: rs121918765
rs121918765
SCN1A ; SCN1A-AS1 ; LOC102724058
0.925 0.040 2 165992284 missense variant A/G;T snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 0
dbSNP: rs761333438
rs761333438
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165994191 stop gained C/A;T snv 1.2E-05
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 0
dbSNP: rs1553522321
rs1553522321
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165998052 frameshift variant G/- delins
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 0
dbSNP: rs1553522331
rs1553522331
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165998061 missense variant T/C snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 1.000 1 2013 2013
dbSNP: rs1553522517
rs1553522517
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165998176 splice acceptor variant C/T snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 0