DisGeNET - a database of gene-disease associations

List of associated variants

Exophthalmos, C0015300

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
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs1557036768	HUWE1	0.708	0.320	X	53647390	missense variant	C/T	snv			44
rs369160589	ALG1	0.742	0.400	16	5082676	splice region variant	A/G	snv	1.0E-04	1.3E-04	35
rs1009298200	ALG1	0.742	0.400	16	5079077	missense variant	C/G;T	snv		7.0E-06	34
rs1555452127	ALG1	0.742	0.400	16	5079078	missense variant	T/C	snv			34
rs121918487	FGFR2	0.716	0.440	10	121517378	missense variant	C/A;G;T	snv			25
rs1564919048	FGFR2	0.732	0.280	10	121520106	missense variant	C/A	snv			23
rs1568269273	NFIX	0.807	0.320	19	13025433	missense variant	G/A	snv			18
rs201217593	DMD	0.790	0.200	X	31177947	stop gained	C/T	snv	2.2E-05	2.9E-05	8
rs730882210	MATN4	0.827	0.280	20	45304356	missense variant	C/G	snv			6
rs797045141	HERC1	0.882	0.160	15	63696341	splice acceptor variant	T/G	snv			5