DisGeNET - a database of gene-disease associations

List of associated variants

Distal Muscular Dystrophies, C0751336

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
rs1565930588	HSPB8	0.882	0.160	12	119193787	frameshift variant	TACTCAACATTTGG/-	del			19
rs121908457	LOC101928005 ; MYOT	0.882	0.120	5	137870815	missense variant	C/T	snv			13
rs757082154	TTN ; TTN-AS1	1.000	0.120	2	178527491	stop gained	G/A	snv	1.2E-05		9
rs150516929	CRYAB	0.807	0.240	11	111908832	missense variant	C/T	snv	9.1E-04	8.7E-04	8
rs121913627	MYH7	0.851	0.080	14	23427657	missense variant	C/A;G;T	snv	4.0E-06		8
rs116840789	SSUH2 ; CAV3	0.925	0.080	3	8745547	missense variant	G/A;T	snv			6
rs121434591	MATR3	1.000		5	139307669	missense variant	C/G	snv			5
rs121913647	MHRT ; MYH7	0.925	0.160	14	23417173	missense variant	C/A;G;T	snv	1.6E-05		4
rs45544633	MHRT ; MYH7	1.000	0.080	14	23417174	missense variant	G/A	snv			4
rs121908458	MYOT ; LOC101928005	0.882	0.120	5	137870830	missense variant	C/G;T	snv	3.6E-05		4
rs387906587	FLNC	1.000		7	128835550	missense variant	G/A	snv			3
rs121913653	MYH7	0.925	0.160	14	23429040	missense variant	G/A	snv	2.3E-04	7.0E-05	3
rs869312739	ACTA1	1.000		1	229432295	missense variant	C/A	snv			2
rs768941858	FLNC-AS1 ; FLNC	1.000	0.080	7	128854900	missense variant	G/A	snv	4.0E-05	2.8E-05	2
rs573899913	FLNC-AS1 ; FLNC			7	128850448	missense variant	T/G	snv	9.2E-05	2.1E-05	1
rs553628577	MYH14			19	50286566	missense variant	C/T	snv	4.2E-06		1
rs764434631	TTN-AS1 ; TTN			2	178740904	missense variant	C/A	snv	4.0E-06		1
rs751755895	TTN ; TTN-AS1			2	178741618	missense variant	C/A	snv	1.2E-05	3.5E-05	1