Disease: X-linked infantile spasms ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121917927
rs121917927 		0.925 0.040 2 166046969 missense variant C/G;T snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 1.000 8 2003 2015
dbSNP: rs794726718
rs794726718 		0.851 0.080 2 166037930 missense variant C/G;T snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 1.000 8 2002 2017
dbSNP: rs121917953
rs121917953 		0.851 0.080 2 166054677 missense variant T/A snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 1.000 7 2001 2015
dbSNP: rs121918788
rs121918788 		0.925 0.040 2 166037931 missense variant G/A snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 1.000 7 2002 2017
dbSNP: rs1057523858
rs1057523858 		0.925 0.040 2 166047647 missense variant A/T snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 1.000 5 2009 2015
dbSNP: rs121917984
rs121917984 		0.790 0.080 2 166052869 missense variant G/A;C snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 1.000 5 2007 2015
dbSNP: rs1553520227
rs1553520227 		1.000 0.040 2 165992006 missense variant C/G snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 1.000 4 2009 2016
dbSNP: rs138877187
rs138877187 		0.882 0.080 2 166045081 stop gained G/A;C;T snv 7.6E-05
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 1.000 3 2006 2010
dbSNP: rs1553524865
rs1553524865 		1.000 0.040 2 166002471 splice donor variant C/A snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 1.000 3 2007 2011
dbSNP: rs794726775
rs794726775 		0.882 0.040 2 166039420 splice region variant T/A snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 1.000 3 2007 2013
dbSNP: rs121917935
rs121917935 		0.851 0.040 2 166054660 missense variant C/A;T snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 1.000 2 2006 2010
dbSNP: rs121917969
rs121917969 		0.925 0.040 2 166037891 missense variant A/G snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 1.000 2 2004 2012
dbSNP: rs1553520320
rs1553520320 		1.000 0.040 2 165992108 missense variant A/G snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 1.000 2 2009 2015
dbSNP: rs1553548096
rs1553548096 		1.000 0.040 2 166048906 stop gained A/C;T snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 1.000 2 2009 2015
dbSNP: rs1553560677
rs1553560677 		1.000 0.040 2 166073357 splice donor variant C/G snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs1553560740
rs1553560740 		1.000 0.040 2 166073405 inframe insertion -/ATC delins
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 1.000 2 2009 2015
dbSNP: rs398123593
rs398123593 		0.882 0.040 2 166002537 stop gained G/A snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 1.000 2 2002 2014
dbSNP: rs794726711
rs794726711 		0.925 0.040 2 166058616 missense variant G/T snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 1.000 2 2015 2015
dbSNP: rs1553519872
rs1553519872 		1.000 0.040 2 165991521 frameshift variant A/- del
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1553520029
rs1553520029 		1.000 0.040 2 165991678 missense variant T/C snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1553522331
rs1553522331 		1.000 0.040 2 165998061 missense variant T/C snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs542420576
rs542420576 		0.925 0.040 2 166036371 stop gained G/A;T snv 4.1E-06
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1057521537
rs1057521537 		1.000 0.040 2 166002695 missense variant C/A;G snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 0
dbSNP: rs1060502182
rs1060502182 		1.000 0.040 2 166013817 frameshift variant -/A delins
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 0
dbSNP: rs1060502185
rs1060502185 		1.000 0.040 2 166058565 splice region variant G/C;T snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 0