DisGeNET - a database of gene-disease associations

List of shared variants

Erythromelalgia, C0014804

Disease: Primary Erythermalgia

Source: ALL

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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
rs6746030	SCN1A-AS1 ; SCN9A	0.763	0.320	2	166242648	missense variant	A/G	snv	0.88	0.88	16
rs80356476	SCN9A ; SCN1A-AS1	0.925	0.040	2	166277252	missense variant	G/A	snv			2
rs80356477	SCN1A-AS1 ; SCN9A	0.925	0.040	2	166277237	missense variant	C/A;G	snv	1.2E-05		2