DisGeNET - a database of gene-disease associations

List of associated variants

Muscular Dystrophies, Limb-Girdle, C0686353

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
rs747685252	ASTN2 ; TRIM32			9	116698433	frameshift variant	G/-	del	2.4E-05	7.0E-06	1
rs1451079560	DYSF			2	71481916	missense variant	A/G	snv		1.4E-05	1
rs760768093	TTN-AS1 ; TTN	0.882	0.160	2	178533255	frameshift variant	C/-	delins	2.4E-05	1.4E-05	7
rs116840777	CAV3 ; SSUH2			3	8745788	missense variant	G/A	snv	1.2E-05	1.4E-05	1
rs397509417	TRAPPC11	1.000		4	183701783	missense variant	G/A	snv	7.2E-05	1.4E-05	2
rs28936383	SGCB	1.000	0.200	4	52028899	missense variant	G/C	snv		1.4E-05	2
rs199806879	CAPN3	0.925	0.120	15	42408227	missense variant	C/T	snv	4.4E-05	3.5E-05	3
rs140403642	TRAPPC11			4	183682810	stop gained	C/T	snv	8.0E-06	4.2E-05	1
rs774296358	TTN-AS1 ; TTN			2	178539128	missense variant	C/T	snv	4.8E-05	9.8E-05	1
rs143570936	SGCA	0.925	0.200	17	50169246	missense variant	G/A	snv	1.1E-04	1.8E-04	5
rs116840776	SSUH2 ; CAV3	1.000	0.040	3	8745627	missense variant	C/G	snv	1.4E-03	1.6E-03	2
rs72677232	TTN ; TTN-AS1			2	178618210	missense variant	C/T	snv	1.6E-03	2.0E-03	1