DisGeNET - a database of gene-disease associations

List of associated variants

PITUITARY DWARFISM I, C0342573

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
rs587779349	BRCA2	0.776	0.280	13	32380040	frameshift variant	C/-	delins			8
rs104894419	LIG4	0.807	0.360	13	108208829	stop gained	G/A	snv	9.9E-05	7.0E-05	8
rs587779351	XRCC4	0.851	0.200	5	83105046	missense variant	T/C	snv	1.6E-05		6
rs587779348	CRIPT	0.882	0.160	2	46623765	frameshift variant	T/-	delins			3
rs587779356	CRIPT	0.882	0.160	2	46619676	frameshift variant	-/GG	delins			3
rs587777614	DNA2	0.882	0.160	10	68416703	frameshift variant	G/-	delins			3
rs759838407	LIG4	0.925	0.160	13	108209756	frameshift variant	AG/-;AGAG	delins			3
rs397514487	POC1A	0.882	0.200	3	52149850	stop gained	G/A	snv		7.0E-06	3
rs137853219	CSHL1 ; GH1	1.000	0.120	17	63918458	stop gained	C/T	snv			1