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: 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
dbSNP: rs41268673
rs41268673
SCN9A ; SCN1A-AS1
2 166284599 missense variant G/C;T snv 4.0E-06; 2.4E-02
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.010 1.000 1 2017 2017
dbSNP: rs4369876
rs4369876
SCN9A ; SCN1A-AS1
2 166272746 missense variant C/A snv 3.3E-02 1.3E-02
CUI: C0030193
Disease: Pain
Pain 		0.010 1.000 1 2015 2015
dbSNP: rs565348
rs565348
SCN1A ; SCN1A-AS1 ; LOC102724058
2 166016789 intron variant A/C snv 0.26
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs666833
rs666833
SCN1A ; SCN1A-AS1
2 166125780 intron variant C/T snv 0.78
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs74401238
rs74401238
SCN9A ; SCN1A-AS1
2 166251875 missense variant C/G;T snv 8.5E-05; 2.0E-02
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.010 1.000 1 2017 2017
dbSNP: rs796052995
rs796052995
SCN1A ; SCN1A-AS1 ; LOC102724058
2 166013842 stop gained G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2017 2017
dbSNP: rs879254102
rs879254102
SCN9A ; SCN1A-AS1
2 166277257 missense variant C/T snv
CUI: C0030193
Disease: Pain
Pain 		0.010 1.000 1 2012 2012
dbSNP: rs1553531385
rs1553531385
SCN1A ; SCN1A-AS1 ; LOC102724058
2 166012262 frameshift variant AATA/- del
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs200972952
rs200972952
SCN9A ; SCN1A-AS1
2 166306951 splice region variant G/A;T snv 8.3E-06; 4.1E-06
CUI: C0344307
Disease: Absence of pain sensation
Absence of pain sensation 		0.700 0
dbSNP: rs797045941
rs797045941
SCN1A ; SCN1A-AS1
2 166051964 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs121918799
rs121918799
SCN1A ; SCN1A-AS1 ; LOC102724058
0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		0.700 1.000 4 2005 2009
dbSNP: rs121918799
rs121918799
SCN1A ; SCN1A-AS1 ; LOC102724058
0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03
CUI: C0270862
Disease: Hemiplegic migraine
Hemiplegic migraine 		0.010 1.000 1 2013 2013
dbSNP: rs121918799
rs121918799
SCN1A ; SCN1A-AS1 ; LOC102724058
0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.010 1.000 1 2007 2007
dbSNP: rs121918799
rs121918799
SCN1A ; SCN1A-AS1 ; LOC102724058
0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03
CUI: C3698357
Disease: Refractory myoclonic epilepsy
Refractory myoclonic epilepsy 		0.010 1.000 1 2013 2013
dbSNP: rs121918799
rs121918799
SCN1A ; SCN1A-AS1 ; LOC102724058
0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.010 1.000 1 2013 2013
dbSNP: rs121918799
rs121918799
SCN1A ; SCN1A-AS1 ; LOC102724058
0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.700 1.000 1 2018 2018
dbSNP: rs121918799
rs121918799
SCN1A ; SCN1A-AS1 ; LOC102724058
0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2013 2013