DisGeNET - a database of gene-disease associations

List of shared variants

Hemiplegic migraine, familial type 1, C1832884

Disease: 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
rs1057520918	CACNA1A	0.790	0.160	19	13262780	missense variant	C/T	snv			11
rs121908217	CACNA1A	0.851	0.120	19	13308452	missense variant	C/T	snv	4.0E-06		9
rs746795369	ATP1A2	0.827	0.080	1	160139969	missense variant	C/A;T	snv	1.2E-05; 4.0E-06		6
rs121908230	CACNA1A	0.882	0.080	19	13262789	missense variant	C/T	snv			5