DisGeNET - a database of gene-disease associations

List of associated variants

Short neck, C0521525

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
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