DisGeNET - a database of gene-disease associations

List of associated variants

Sarcopenia, C0872084

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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
rs3782886	BRAP	0.724	0.480	12	111672685	synonymous variant	T/C	snv	1.9E-02	5.9E-03	22
rs7804372	CAV1	0.716	0.320	7	116554174	intron variant	T/A	snv		0.27	19
rs1815739	ACTN3	0.763	0.240	11	66560624	stop gained	C/T	snv		0.37	17
rs3807987	CAV1	0.732	0.280	7	116539780	intron variant	G/A	snv		7.6E-02	17
rs1997623	CAV1	0.807	0.160	7	116525306	missense variant	A/C;G	snv	0.86		9
rs3807992	CAV1	0.925	0.080	7	116557191	intron variant	G/A	snv		0.28	5
rs3757733	CAV1	1.000	0.040	7	116553675	intron variant	T/A	snv		0.26	4
rs1805086	MSTN ; C2orf88	0.925	0.120	2	190060351	missense variant	T/C	snv	2.8E-02	7.1E-02	3