DisGeNET - a database of gene-disease associations

List of associated variants

Thick lower lip vermilion, C1839739

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
rs796052505	GABRG2	0.724	0.440	5	162095551	missense variant	G/A;C	snv			57
rs387907144	ARID1B	0.716	0.600	6	157181056	stop gained	C/A;T	snv			34
rs875989800	SMARCB1	0.732	0.480	22	23833670	inframe deletion	AGA/-	delins			33
rs312262690	ANTXR2	0.752	0.320	4	79984831	frameshift variant	-/G;GG	delins	1.7E-05		28
rs387906846	ARID1A	0.807	0.280	1	26773716	stop gained	C/G;T	snv			19
rs782736894	BPTF	0.827	0.280	17	67975841	missense variant	T/C;G	snv	4.0E-06	7.0E-06	16
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