DisGeNET - a database of gene-disease associations

List of associated variants

Blue sclera, C0542514

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
rs397514698	GNAQ	0.667	0.400	9	77797577	missense variant	C/T	snv			52
rs1557043622	SLC35A2	0.695	0.400	X	48909843	missense variant	C/A	snv			46
rs1555575860	COG4	0.732	0.240	16	70496367	missense variant	C/G;T	snv			31
rs66527965	COL1A1	0.763	0.240	17	50193038	missense variant	C/A;T	snv			31
rs1568269273	NFIX	0.807	0.320	19	13025433	missense variant	G/A	snv			18
rs139751598	PYCR1	0.851	0.240	17	81934931	missense variant	C/T	snv	2.4E-05	4.2E-05	13
rs1553630457	TGFBR2	0.882	0.240	3	30674231	missense variant	T/C	snv			8
rs1555696625	NFIX	0.851	0.360	19	13025409	missense variant	G/A	snv			7
rs1555222973	CREB3L1	0.851	0.160	11	46312636	inframe deletion	AAG/-	delins			6
rs1555178899	WNT10B ; WNT1	0.925		12	48978757	splice region variant	AGTGAGCTGGTGCGGGGTCGCCACTTGTCCCGCGGCACAGA/-	delins			4
rs1057518930	COL1A1	1.000	0.080	17	50197009	splice donor variant	C/G	snv			3
rs1567757138	COL1A1	1.000	0.120	17	50191446	frameshift variant	A/-	del			2
rs1555572315	COL1A1			17	50188740	splice donor variant	A/T	snv			1