DisGeNET - a database of gene-disease associations

List of associated variants

Strabismus, C0038379

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
rs1557043622	SLC35A2	0.695	0.400	X	48909843	missense variant	C/A	snv			46
rs1569548274	MECP2	0.701	0.520	X	154030553	splice acceptor variant	TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-	delins			43
rs28934907	MECP2	0.732	0.320	X	154032268	missense variant	G/A;C	snv			30
rs1569509136	HUWE1	0.708	0.400	X	53647576	splice acceptor variant	T/C	snv			24
rs758946412	PCDH19	0.790	0.240	X	100407507	frameshift variant	G/-;GG	delins			12
rs1325394060	HUWE1	0.851	0.320	X	53534144	missense variant	C/G;T	snv		9.5E-06	9
rs1556913258	HUWE1	0.851	0.280	X	53536580	missense variant	G/C	snv			7
rs1556978515	HUWE1	0.851	0.280	X	53591113	missense variant	T/C	snv			7
rs886041876	HUWE1	0.851	0.280	X	53551078	missense variant	G/A	snv			7
rs1556912828	HUWE1	0.925	0.280	X	53536209	missense variant	G/C	snv			6
rs782393002	HUWE1	0.882	0.280	X	53549413	missense variant	A/C;G	snv	1.1E-05		6
rs1556913180	HUWE1	0.882	0.280	X	53536488	missense variant	T/C	snv			5
rs1557006903	HUWE1	0.851	0.280	X	53615815	missense variant	C/T	snv			5
rs1557006873	HUWE1	0.925	0.280	X	53615786	missense variant	A/C	snv			4
rs148677674	LZTR1	0.882	0.160	22	20994988	missense variant	C/A;T	snv	2.4E-05; 1.6E-04		3
rs137854539	GNAS	0.716	0.520	20	58903703	missense variant	C/T	snv			28
rs1555745467	CACNA1A	0.752	0.240	19	13262771	missense variant	C/A	snv			23
rs1568269273	NFIX	0.807	0.320	19	13025433	missense variant	G/A	snv			18
rs1057519429	CACNA1A	0.807	0.240	19	13235666	missense variant	C/G;T	snv			15
rs878853165	HOOK2 ; MAST1	0.882	0.200	19	12843558	missense variant	C/T	snv			6
rs730882213	ADAT3 ; SCAMP4	0.925	0.080	19	1912477	missense variant	G/A	snv		7.0E-06	4
rs1555736565	CACNA1A	0.925	0.080	19	13230191	missense variant	C/A;T	snv			3
rs1555743003	ASXL3	0.701	0.520	18	33740444	splice donor variant	G/A	snv			58
rs1057518848	TCF4	0.827	0.240	18	55229003	frameshift variant	-/ATTG	delins			15
rs1163944538	TMEM94	0.641	0.560	17	75494905	frameshift variant	-/A	delins	4.0E-06		73