DisGeNET - a database of gene-disease associations

List of associated variants

PAROXYSMAL EXTREME PAIN DISORDER, C1833661

Source: CLINVAR ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs121908910	SCN1A-AS1 ; SCN9A	0.882	0.120	2	166272731	missense variant	G/A;C	snv	1.8E-05; 4.4E-06		3
rs121908913	SCN9A ; SCN1A-AS1	0.882	0.120	2	166228969	missense variant	C/A	snv			3
rs1131691776	SCN1A-AS1 ; SCN9A	1.000	0.040	2	166199771	missense variant	A/G	snv			1
rs121908911	SCN9A ; SCN1A-AS1	1.000	0.040	2	166228971	missense variant	A/T	snv			1
rs121908912	SCN9A ; SCN1A-AS1	1.000	0.040	2	166228972	missense variant	C/A	snv			1
rs121908914	SCN9A ; SCN1A-AS1	1.000	0.040	2	166204448	missense variant	A/G;T	snv			1
rs121908915	SCN9A ; SCN1A-AS1	1.000	0.040	2	166204439	missense variant	G/A	snv			1
rs1553474394	SCN9A ; SCN1A-AS1	1.000	0.040	2	166204446	missense variant	A/C	snv			1
rs879253994	SCN9A ; SCN1A-AS1	0.925	0.080	2	166199711	missense variant	G/A;T	snv	4.0E-06		1