DisGeNET - a database of gene-disease associations

List of shared variants

Short stature, C0349588

Disease: Anteverted nostril

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
rs1400419650	TRIP11	0.708	0.320	14	92005938	stop gained	C/A;T	snv	4.0E-06	1.4E-05	38
rs1555386022	TRIP11	0.708	0.320	14	92003418	splice donor variant	C/A	snv			38
rs312262690	ANTXR2	0.752	0.320	4	79984831	frameshift variant	-/G;GG	delins	1.7E-05		28
rs397517148	SOS1	0.776	0.200	2	39023128	missense variant	C/T	snv			27
rs387907260	KCTD7	0.776	0.280	7	66633410	missense variant	C/T	snv	4.0E-06	1.4E-05	22
rs796052686	KCTD7	0.776	0.280	7	66638394	missense variant	G/A	snv	1.2E-05		22
rs1555154946	ARID2 ; LOC105369745	0.827	0.120	12	45850644	stop gained	C/T	snv			16
rs1555565774	EFTUD2	0.807	0.360	17	44862753	frameshift variant	G/-	delins			16