DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Megalencephaly cutis marmorata telangiectatica congenita ×

Variants associated to the Gene: PIK3CA ×

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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
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		71
rs121913281	PIK3CA	0.623	0.520	3	179234296	missense variant	C/T	snv			37
rs1057519925	PIK3CA	0.683	0.560	3	179210291	missense variant	G/A;C	snv			25
rs121913283	PIK3CA	0.724	0.440	3	179234286	missense variant	G/A;T	snv	4.0E-06		16
rs121913287	PIK3CA	0.752	0.400	3	179199088	missense variant	G/A	snv			12
rs1057519929	PIK3CA	0.776	0.320	3	179199066	missense variant	G/A	snv			10
rs867262025	PIK3CA	0.790	0.360	3	179221146	missense variant	G/A	snv			10
rs863225460	PIK3CA	0.882	0.200	3	179199160	missense variant	T/A	snv			5
rs121913277	PIK3CA	0.925	0.280	3	179234302	missense variant	G/A;C	snv			4
rs397517202	PIK3CA	0.851	0.320	3	179234230	missense variant	A/G	snv			4
rs1064793732	PIK3CA	0.882	0.320	3	179204536	missense variant	G/A	snv			3
rs397514565	PIK3CA	0.882	0.240	3	179204576	missense variant	G/A	snv			3
rs121913288	PIK3CA	1.000	0.200	3	179234219	missense variant	A/G	snv			2
rs587776932	PIK3CA	0.925	0.280	3	179230077	missense variant	G/A	snv			2
rs1242945375	PIK3CA	1.000	0.200	3	179234261	missense variant	C/T	snv			1
rs587776933	PIK3CA	1.000	0.200	3	179210290	inframe deletion	AGA/-	delins			1