DisGeNET - a database of gene-disease associations

List of associated variants

NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL (disorder), C2675646

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
rs120074125	SMPD1	0.882	0.160	11	6393301	missense variant	T/G	snv	4.0E-06		7
rs120074128	SMPD1	0.882	0.160	11	6391945	missense variant	C/A	snv	8.0E-06	7.0E-06	3