DisGeNET - a database of gene-disease associations

List of shared variants

Hemiplegic migraine, familial type 1, C1832884

Disease: Familial Hemiplegic Migraine

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
rs121908212	CACNA1A	0.732	0.160	19	13303877	missense variant	G/A	snv			14
rs121918799	SCN1A-AS1 ; SCN1A ; LOC102724058	0.752	0.120	2	166015636	missense variant	G/C	snv	1.7E-03	1.6E-03	14
rs121908225	CACNA1A	0.790	0.120	19	13365448	missense variant	G/A	snv			12
rs746795369	ATP1A2	0.827	0.080	1	160139969	missense variant	C/A;T	snv	1.2E-05; 4.0E-06		6
rs121908211	CACNA1A	0.882	0.080	19	13371744	missense variant	C/T	snv			5
rs121918632	LOC102724058 ; SCN1A-AS1 ; SCN1A	0.851	0.120	2	165996099	missense variant	A/G	snv		7.0E-06	5
rs121908214	CACNA1A	0.925	0.080	19	13230185	missense variant	T/G	snv			4
rs28933400	ATP1A2	0.882	0.080	1	160135510	missense variant	T/C	snv			3
rs121908218	CACNA1A	0.925	0.080	19	13303576	missense variant	G/A;C;T	snv			2
rs121908223	CACNA1A	0.925	0.080	19	13262823	missense variant	T/C	snv			2