DisGeNET - a database of gene-disease associations

List of associated variants

Long eyelashes, C1853738

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
rs1163944538	TMEM94	0.641	0.560	17	75494905	frameshift variant	-/A	delins	4.0E-06		73
rs1352010373	TMEM94	0.641	0.560	17	75489265	splice acceptor variant	G/C	snv			73
rs199469465	SRCAP	0.672	0.560	16	30737343	stop gained	C/A;T	snv			50
rs387907144	ARID1B	0.716	0.600	6	157181056	stop gained	C/A;T	snv			34
rs1060505041	NACC1	0.716	0.400	19	13136099	missense variant	C/A;T	snv			34
rs875989800	SMARCB1	0.732	0.480	22	23833670	inframe deletion	AGA/-	delins			33
rs1554208945	ZNF292	0.752	0.240	6	87260207	missense variant	A/C	snv			26
rs864309487	GMNN	0.763	0.280	6	24777279	frameshift variant	TCAA/-	delins			20
rs1566785444	IRF2BPL	0.827	0.200	14	77025671	frameshift variant	C/-	delins			20
rs387906846	ARID1A	0.807	0.280	1	26773716	stop gained	C/G;T	snv			19
rs1563686762	RAD21 ; UTP23	0.790	0.280	8	116847620	inframe deletion	GTT/-	delins			16
rs1064797102	OTUD6B-AS1 ; OTUD6B	0.827	0.120	8	91071136	splice acceptor variant	A/G	snv			15
rs879253745	ARID1B	0.925	0.240	6	157181040	frameshift variant	AA/-	delins			6
rs879253746	ARID1B	0.925	0.240	6	157200866	frameshift variant	-/T	delins			6
rs879253747	ARID1B	0.925	0.240	6	157167101	stop gained	C/T	snv			6
rs879253856	ARID1B	0.925	0.240	6	157110496	frameshift variant	CCG/TCCGCAGCCACTCC	delins			6
rs1555789019	TCF4	0.882	0.320	18	55269829	splice donor variant	ACCCAT/GGGAC	delins			5