DisGeNET - a database of gene-disease associations

List of shared variants

Short neck, C0521525

Disease: Scoliosis, unspecified

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
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			73
rs1364709483	TBX2-AS1 ; TBX2	0.701	0.360	17	61400235	missense variant	G/A	snv		6.5E-05	36
rs1060505041	NACC1	0.716	0.400	19	13136099	missense variant	C/A;T	snv			34
rs1569518070	COL6A1	0.752	0.480	21	45989088	inframe deletion	AAC/-	del			33
rs1561881909	CUL7 ; KLC4	0.925	0.200	6	43044835	frameshift variant	G/-	delins			9
rs557849165	MYH3	0.776	0.160	17	10656089	splice donor variant	C/T	snv		1.2E-03	9
rs1561898352	CUL7 ; KLC4	0.882	0.200	6	43052582	frameshift variant	-/A	delins			8
rs1567552713	MYH3	0.827	0.120	17	10633590	splice donor variant	C/T	snv			7
rs1567558314	MYH3	0.807	0.080	17	10643215	intron variant	CTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTT/-	delins			7
rs1567564042	MYH3	0.827	0.120	17	10654924	stop gained	A/C	snv			6