DisGeNET - a database of gene-disease associations

List of associated variants

Malar flattening, C1858085

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
rs886040971	TRPS1	0.683	0.280	8	115604339	stop gained	G/A;T	snv			56
rs61750420	PEX1	0.689	0.480	7	92501562	missense variant	C/T	snv	3.2E-04	3.5E-04	52
rs1557036768	HUWE1	0.708	0.320	X	53647390	missense variant	C/T	snv			44
rs886041065	ASXL2	0.677	0.600	2	25743913	frameshift variant	G/-	delins			43
rs1232880706	FBN1	0.689	0.440	15	48526247	stop gained	C/A;T	snv			36
rs113871094	FBN1	0.683	0.320	15	48465820	stop gained	G/A	snv			34
rs1034395178	LZTR1	0.716	0.480	22	20996071	stop gained	C/A;T	snv	4.0E-06; 8.0E-06		33
rs1569509136	HUWE1	0.708	0.400	X	53647576	splice acceptor variant	T/C	snv			24
rs1566911709	FBN1	0.742	0.240	15	48495502	frameshift variant	T/-	delins			15
rs1555395001	FBN1	0.807	0.200	15	48434600	missense variant	A/G	snv			8
rs1566913974	FBN1	0.807	0.200	15	48505029	missense variant	A/C	snv			8
rs797045954	SF3B4	0.851	0.160	1	149923568	frameshift variant	TCGAGGGGGAACTGGTGGCC/-	delins			5