DisGeNET - a database of gene-disease associations

List of associated variants

Retrognathia, C3494422

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
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins			87
rs1553621496	UNC80	0.677	0.440	2	209976305	splice donor variant	T/G	snv			53
rs1565679039	COL2A1	0.701	0.400	12	47983399	stop gained	T/A	snv			45
rs1569548274	MECP2	0.701	0.520	X	154030553	splice acceptor variant	TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-	delins			43
rs137852981	ZEB2	0.752	0.480	2	144399104	stop gained	G/A	snv			30
rs1566911709	FBN1	0.742	0.240	15	48495502	frameshift variant	T/-	delins			15
rs763028380	ABCC8	0.851	0.320	11	17453271	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		12
rs1114167291	ANKRD11	0.790	0.280	16	89281225	stop gained	C/A	snv			10
rs1057516045	LBR	0.925	0.160	1	225403404	stop gained	G/A	snv	1.6E-05		8
rs1057516040	NALCN	0.851	0.200	13	101292052	missense variant	T/C	snv			7
rs1057516029	TRIO	0.882	0.160	5	14290809	stop gained	G/T	snv			6