DisGeNET - a database of gene-disease associations

List of shared variants

Saethre-Chotzen Syndrome, C0175699

Disease: Craniosynostosis, Type 1

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
rs1085307555	TWIST1	0.925	0.080	7	19116993	missense variant	C/G;T	snv			2
rs121909188	TWIST1	0.925	0.080	7	19116946	stop gained	C/A	snv			2
rs1554441991	TWIST1	0.925	0.080	7	19116905	inframe insertion	-/GGCAGCGTGGGGATGATCTTC	delins			2
rs1554441993	TWIST1	0.925	0.080	7	19116913	frameshift variant	-/G	delins			2
rs1554441995	TWIST1	0.925	0.080	7	19116927	missense variant	C/G	snv			2
rs1554442019	TWIST1	0.925	0.080	7	19116976	missense variant	G/C	snv			2
rs1554442082	TWIST1	0.925	0.080	7	19117180	frameshift variant	CGCGCTGCGCC/-	delins			2
rs1563159980	TWIST1	0.925	0.080	7	19116903	stop gained	-/AGGGCAGCGTGGGGATGATCT	delins			2
rs1563160116	TWIST1	0.925	0.080	7	19117021	stop gained	G/A	snv			2
rs1563160337	TWIST1	0.925	0.080	7	19117211	frameshift variant	CGTCCCCCGCGCTTGCCGCTCG/-	delins			2