DisGeNET - a database of gene-disease associations

List of shared variants

Clinodactyly of the 5th finger, C1850049

Disease: Short stature

Source: ALL

Results per page

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
rs368869806	PTCH1	0.614	0.480	9	95485875	splice acceptor variant	C/T	snv	4.0E-06	7.0E-06	97
rs1554888939	EHMT1	0.683	0.640	9	137798823	missense variant	G/T	snv			58
rs199469465	SRCAP	0.672	0.560	16	30737343	stop gained	C/A;T	snv			50
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
rs1060499548	ABL1	0.724	0.440	9	130872961	missense variant	G/A	snv			27
rs397517148	SOS1	0.776	0.200	2	39023128	missense variant	C/T	snv			27
rs1555429629	RAD51	0.763	0.200	15	40729632	missense variant	G/A	snv			23
rs879253753	ANKRD11	0.851	0.280	16	89280526	frameshift variant	-/T	delins			19
rs1569525894	SLC9A6	0.790	0.280	X	136040055	frameshift variant	TCTTCCTTAACCACCGC/-	delins			14