DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Osteopetrosis, Autosomal Recessive 5 ×

Variants associated to the Gene: OSTM1 ×

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
rs119460973	OSTM1	1.000	0.040	6	108074616	stop gained	A/C;T	snv	6.0E-06		1
rs1554250938	OSTM1	1.000	0.040	6	108051026	splice region variant	C/A	snv			1
rs1562370077	OSTM1	1.000	0.040	6	108049248	splice region variant	C/T	snv			1
rs794727287	OSTM1	1.000	0.040	6	108064286	frameshift variant	CT/-	delins			1