DisGeNET - a database of gene-disease associations

List of associated variants

Trichotillomania, C0040953

Source: ALL

Results per page

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
rs368869806	PTCH1	0.614	0.480	9	95485875	splice acceptor variant	C/T	snv	4.0E-06	7.0E-06	97
rs1331463984	TRAF7	0.701	0.240	16	2176350	missense variant	G/A	snv			33
rs1085307845	PHIP	0.752	0.320	6	79025582	missense variant	G/T	snv			21
rs11583978	DLGAP3	0.925	0.040	1	34864921	downstream gene variant	A/C;G	snv			2
rs193302861	SLITRK1	0.925	0.120	13	83880244	frameshift variant	G/-	delins			2
rs1035448844	SLITRK1	1.000	0.040	13	83879757	missense variant	C/T	snv	3.2E-05	1.4E-05	1
rs1368546312	SLITRK1	1.000	0.040	13	83879731	missense variant	T/C	snv	4.0E-06	7.0E-06	1