DisGeNET - a database of gene-disease associations

List of associated variants

Increased tendency to bruise, C0423798

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
rs121918459	PTPN11	0.662	0.440	12	112450368	missense variant	A/G	snv	1.2E-05	7.0E-06	47
rs1554317002	LOC112267983 ; CDK13	0.724	0.440	7	39950821	frameshift variant	C/-	delins			45
rs121918455	PTPN11	0.695	0.440	12	112477720	missense variant	A/C;G	snv			31
rs121918460	PTPN11	0.708	0.400	12	112450364	missense variant	T/A;G	snv	4.0E-06		27
rs121913348	BRAF	0.763	0.480	7	140781617	missense variant	C/A;G;T	snv			20
rs397507531	PTPN11	0.752	0.320	12	112473040	missense variant	T/C;G	snv			18
rs1443187318	AEBP1	0.882	0.080	7	44108060	stop gained	-/A	delins	1.3E-05		14
rs1554781700	COL5A1	0.851	0.240	9	134701287	missense variant	G/T	snv			12
rs869025195	RIT1	0.790	0.280	1	155904493	missense variant	T/G	snv			11
rs72645347	COL1A1	0.790	0.280	17	50196337	missense variant	G/A	snv			10
rs1057518871	COL5A1	0.925	0.120	9	134798410	frameshift variant	C/-	delins			10
rs864309530	LYST			1	235806165	missense variant	G/T	snv			3