DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Blood Protein Measurement ×

Variants associated to the Gene: SELP ×

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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
rs6136	SELP	0.752	0.440	1	169594713	missense variant	T/G	snv	8.2E-02	7.5E-02	3
rs2205895	SELP			1	169603407	intron variant	C/T	snv		0.39	1
rs2223303	SELP			1	169605649	intron variant	C/T	snv		0.32	1
rs3917775	SELP			1	169601838	intron variant	T/C	snv		0.42	1
rs6128	SELP	0.851	0.360	1	169593666	synonymous variant	C/A;T	snv	2.8E-05; 0.24		1