DisGeNET - a database of gene-disease associations

List of shared variants

Clinodactyly of the 5th finger, C1850049

Disease: Congenital pectus excavatum

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
rs397507520	PTPN11	0.658	0.520	12	112453279	missense variant	G/C;T	snv			39
rs1060505041	NACC1	0.716	0.400	19	13136099	missense variant	C/A;T	snv			34
rs1064795559	MORC2	0.752	0.320	22	30946373	missense variant	G/A	snv			29
rs1060499548	ABL1	0.724	0.440	9	130872961	missense variant	G/A	snv			27
rs180177135	PALB2	0.716	0.520	16	23607891	frameshift variant	T/-	del		2.1E-05	27
rs397517148	SOS1	0.776	0.200	2	39023128	missense variant	C/T	snv			27
rs1569525894	SLC9A6	0.790	0.280	X	136040055	frameshift variant	TCTTCCTTAACCACCGC/-	delins			14
rs201217593	DMD	0.790	0.200	X	31177947	stop gained	C/T	snv	2.2E-05	2.9E-05	8