Source: ALL

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: rs1553479216
rs1553479216
SCN9A ; SCN1A-AS1
2 166228902 stop gained C/T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 21 1995 2016
dbSNP: rs121917995
rs121917995
SCN1A ; SCN1A-AS1 ; LOC102724058
2 165992368 missense variant C/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 19 1997 2014
dbSNP: rs1553540213
rs1553540213
SCN1A ; SCN1A-AS1 ; LOC102724058
2 166036185 frameshift variant C/- del
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 19 1997 2014
dbSNP: rs1553549717
rs1553549717
SCN1A ; SCN1A-AS1
1.000 2 166051871 frameshift variant C/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 19 1997 2014
dbSNP: rs1553549717
rs1553549717
SCN1A ; SCN1A-AS1
1.000 2 166051871 frameshift variant C/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 19 1997 2014
dbSNP: rs1553519902
rs1553519902
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 2 165991548 inframe deletion AGT/- delins
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 5 2002 2017
dbSNP: rs1559140110
rs1559140110
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 2 166009717 splice donor variant A/G snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 3 2007 2011
dbSNP: rs1559199628
rs1559199628
SCN1A ; SCN1A-AS1
1.000 2 166037922 missense variant T/C snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 3 2009 2015
dbSNP: rs1553520439
rs1553520439
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 2 165992311 missense variant C/G snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 2 2009 2015
dbSNP: rs1553521567
rs1553521567
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 2 165996118 splice acceptor variant G/A snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 2 2007 2009
dbSNP: rs1553525313
rs1553525313
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 2 166002704 missense variant A/G snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 2 2009 2015
dbSNP: rs1553540503
rs1553540503
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 2 166036530 missense variant C/T snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 2 2003 2005
dbSNP: rs1553549471
rs1553549471
SCN1A ; SCN1A-AS1
1.000 2 166051741 stop gained C/G;T snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 2 2009 2015
dbSNP: rs1553549834
rs1553549834
SCN1A ; SCN1A-AS1
1.000 2 166051931 missense variant A/C snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 2 2009 2015
dbSNP: rs1553560676
rs1553560676
SCN1A ; SCN1A-AS1
1.000 2 166073353 splice donor variant CTCACT/GGCA delins
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 2 2007 2009
dbSNP: rs1553560760
rs1553560760
SCN1A ; SCN1A-AS1
1.000 2 166073439 inframe deletion AGGTTCTTTCCA/- delins
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 2 2009 2015
dbSNP: rs1553561016
rs1553561016
SCN1A ; SCN1A-AS1
1.000 2 166073619 start lost C/T snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 2 2009 2011
dbSNP: rs1559140855
rs1559140855
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 2 166009842 splice acceptor variant C/A snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 2 2007 2009
dbSNP: rs1559238432
rs1559238432
SCN1A ; SCN1A-AS1
1.000 2 166051886 missense variant A/G snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 2 2009 2015
dbSNP: rs1043031572
rs1043031572
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 2 166012205 stop gained G/A;C snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 1 2009 2009
dbSNP: rs11885663
rs11885663
SCN1A ; SCN1A-AS1
2 166087494 intron variant C/T snv 0.22
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		0.700 1.000 1 2019 2019
dbSNP: rs11898284
rs11898284
SCN9A ; SCN1A-AS1
2 166325017 intron variant A/G snv 0.15
CUI: C0030193
Disease: Pain
Pain 		0.010 1.000 1 2015 2015
dbSNP: rs12151636
rs12151636
SCN1A ; SCN1A-AS1
2 166065703 intron variant T/C snv 1.6E-02
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs12463754
rs12463754
SCN1A ; SCN1A-AS1
2 166086153 intron variant C/G snv 0.28
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		0.700 1.000 1 2019 2019
dbSNP: rs12478318
rs12478318
SCN9A ; SCN1A-AS1
2 166277030 missense variant T/G snv 3.7E-02 1.3E-02
CUI: C0030193
Disease: Pain
Pain 		0.010 1.000 1 2015 2015