DisGeNET - a database of gene-disease associations

List of shared variants

Strabismus, C0038379

Disease: Laryngomalacia

Source: CLINVAR ×

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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
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins			87
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs1555743003	ASXL3	0.701	0.520	18	33740444	splice donor variant	G/A	snv			58
rs1553621496	UNC80	0.677	0.440	2	209976305	splice donor variant	T/G	snv			53
rs1569548274	MECP2	0.701	0.520	X	154030553	splice acceptor variant	TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-	delins			43
rs387907144	ARID1B	0.716	0.600	6	157181056	stop gained	C/A;T	snv			34
rs28934907	MECP2	0.732	0.320	X	154032268	missense variant	G/A;C	snv			29
rs1568269273	NFIX	0.807	0.320	19	13025433	missense variant	G/A	snv			18