DisGeNET - a database of gene-disease associations

List of shared variants

Short stature, C0349588

Disease: Feeding difficulties in infancy

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
rs199469465	SRCAP	0.672	0.560	16	30737343	stop gained	C/A;T	snv			50
rs867410737	ATP5F1D	0.708	0.440	19	1242559	missense variant	C/T	snv	6.7E-06		45
rs387907144	ARID1B	0.716	0.600	6	157181056	stop gained	C/A;T	snv			34
rs1057518345	ADNP	0.742	0.400	20	50894172	frameshift variant	ACTA/-	delins			25
rs587783446	CHD7	0.763	0.280	8	60850546	stop gained	C/T	snv			19
rs672601334	RIT1	0.752	0.400	1	155904798	missense variant	G/C	snv			18
rs730881014	RIT1	0.776	0.360	1	155904494	stop gained	A/C;G;T	snv			15