Source: CLINVAR

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: rs1131691776
rs1131691776
SCN9A ; SCN1A-AS1
1.000 0.040 2 166199771 missense variant A/G snv
CUI: C1833661
Disease: PAROXYSMAL EXTREME PAIN DISORDER
PAROXYSMAL EXTREME PAIN DISORDER 		0.810 1.000 0 2015 2015
dbSNP: rs80356476
rs80356476
SCN9A ; SCN1A-AS1
0.925 0.040 2 166277252 missense variant G/A snv
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		0.810 1.000 0 2004 2014
dbSNP: rs121917971
rs121917971
SCN1A ; SCN1A-AS1
0.851 0.080 2 166037885 missense variant C/G;T snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 1.000 13 2003 2017
dbSNP: rs121917927
rs121917927
SCN1A ; SCN1A-AS1
0.925 0.040 2 166046969 missense variant C/G;T snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 1.000 11 2003 2017
dbSNP: rs121918775
rs121918775
SCN1A ; SCN1A-AS1
0.827 0.080 2 166037886 missense variant G/A;T snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 1.000 6 2003 2017
dbSNP: rs121918791
rs121918791
SCN1A ; SCN1A-AS1 ; LOC102724058
0.882 0.080 2 165992333 missense variant G/A snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 1.000 3 2002 2017
dbSNP: rs121917915
rs121917915
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165994176 missense variant C/A snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 1.000 1 2003 2017
dbSNP: rs121917918
rs121917918
SCN1A ; SCN1A-AS1
0.851 0.040 2 166058651 missense variant C/A;T snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 1.000 1 2003 2017
dbSNP: rs121917921
rs121917921
SCN1A ; SCN1A-AS1 ; LOC102724058
0.882 0.040 2 165991927 missense variant G/A snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 1.000 1 2003 2017
dbSNP: rs121917922
rs121917922
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165992302 missense variant G/A;C snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 1.000 1 2003 2017
dbSNP: rs121917923
rs121917923
SCN1A ; SCN1A-AS1
1.000 0.040 2 166047725 missense variant G/A;T snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 1.000 1 2003 2017
dbSNP: rs121917937
rs121917937
SCN1A ; SCN1A-AS1
0.925 0.040 2 166052866 missense variant A/C snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 1.000 1 2003 2017
dbSNP: rs121917938
rs121917938
SCN1A ; SCN1A-AS1
1.000 0.040 2 166051845 missense variant A/G snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 1.000 1 2003 2017
dbSNP: rs121917960
rs121917960
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 166002753 missense variant C/T snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 1.000 1 2003 2017
dbSNP: rs121917965
rs121917965
SCN1A ; SCN1A-AS1
1.000 0.040 2 166058652 missense variant G/A snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 1.000 1 2003 2017
dbSNP: rs121917976
rs121917976
SCN1A ; SCN1A-AS1 ; LOC102724058
0.882 0.080 2 165992341 missense variant C/G;T snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 1.000 1 2003 2017
dbSNP: rs121917980
rs121917980
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165991928 missense variant C/T snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 1.000 1 2003 2017
dbSNP: rs121917985
rs121917985
SCN1A ; SCN1A-AS1
1.000 0.040 2 166051968 missense variant C/T snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 1.000 1 2003 2017
dbSNP: rs121917986
rs121917986
SCN1A ; SCN1A-AS1 ; LOC102724058
0.882 0.040 2 166002588 missense variant C/G;T snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 1.000 1 2003 2017
dbSNP: rs121917990
rs121917990
SCN1A ; SCN1A-AS1
1.000 0.040 2 166043836 missense variant T/A;C snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 1.000 1 2003 2017
dbSNP: rs121918733
rs121918733
SCN1A ; SCN1A-AS1
1.000 0.040 2 166058684 missense variant A/G snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 1.000 1 2003 2017
dbSNP: rs121918734
rs121918734
SCN1A ; SCN1A-AS1
1.000 0.040 2 166058681 missense variant A/G snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 1.000 1 2003 2017
dbSNP: rs121918735
rs121918735
SCN1A ; SCN1A-AS1
1.000 0.040 2 166051906 missense variant G/A;T snv 3.2E-05
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 1.000 1 2003 2017
dbSNP: rs121918736
rs121918736
SCN1A ; SCN1A-AS1
1.000 0.040 2 166037907 missense variant G/A;C snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 1.000 1 2003 2017
dbSNP: rs121918737
rs121918737
SCN1A ; SCN1A-AS1
1.000 0.040 2 166037868 missense variant A/C snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 1.000 1 2003 2017