DisGeNET - a database of gene-disease associations

List of associated variants

Myopathy, C0026848

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
rs757592525	DMD			X	31478270	missense variant	A/G	snv	5.5E-06		1
rs765648938	PRKN			6	162201135	missense variant	G/A;T	snv	4.0E-06; 4.0E-06		1
rs77051277	LOC105371433			1	150167075	downstream gene variant	A/G	snv		2.2E-04	1
rs774521989	COL6A2			21	46132125	missense variant	C/T	snv	1.6E-05	4.9E-05	1
rs782052037	PLEC			8	143932986	missense variant	G/A	snv			1
rs782699072	PLEC			8	143934399	missense variant	G/A	snv	1.6E-05	7.0E-06	1
rs797045477	COL6A1			21	45990771	splice acceptor variant	A/G	snv			1
rs797045478	COL6A2			21	46116045	missense variant	G/A	snv			1
rs797045479	COL6A3			2	237361150	stop gained	G/A	snv			1
rs797045730	MYH7 ; MHRT			14	23416071	missense variant	A/G	snv			1
rs797045931	RYR1			19	38457580	frameshift variant	TGGCC/-	delins			1
rs797045932	RYR1			19	38460515	frameshift variant	G/-	delins		2.8E-05	1
rs797045933	RYR1			19	38467665	inframe insertion	-/TCCTAT	delins			1
rs797045934	RYR1			19	38467813	splice donor variant	G/A;T	snv	4.0E-06		1
rs797045935	RYR1			19	38506860	stop gained	C/A;T	snv			1
rs797046060	TTN-AS1 ; TTN			2	178719588	frameshift variant	GC/T	delins			1
rs797046064	TTN-AS1 ; TTN			2	178634010	frameshift variant	CAAA/-	delins			1
rs867317000	AMPD2			1	109628710	missense variant	G/A	snv		7.0E-06	1
rs9342288	EYS			6	64477153	intron variant	G/A	snv		0.31	1
rs9806699	C15orf48 ; LOC105376714			15	45448194	intron variant	G/A	snv		0.31	1
rs35049558	MYL2	0.851	0.040	12	110914287	frameshift variant	-/CT	ins	8.0E-06		8
rs57045855	LMNA	0.882	0.040	1	156134464	missense variant	A/G;T	snv			6
rs149104283	SLCO1B3-SLCO1B7	0.882	0.040	12	20930928	intron variant	C/G;T	snv			4
rs1215029143	IKBKG	1.000	0.040	X	154558608	missense variant	G/A;T	snv			2
rs1227057051	CRYAA ; LOC107987300	1.000	0.040	21	43172266	missense variant	G/A	snv	8.2E-06		2