DisGeNET - a database of gene-disease associations

List of associated variants

Cardiomyopathy, Hypertrophic, Familial, C0949658

Source: CLINVAR ×

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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
rs193922680	ACTC1 ; LOC101928174	0.790	0.080	15	34793398	missense variant	C/T	snv	4.0E-06	7.0E-06	7
rs121434470	COX1 ; ND1 ; TRNI ; ND2	1.000	0.080	MT	4300	non coding transcript exon variant	A/G	snv			1
rs267607490	DES	0.925	0.160	2	219425734	missense variant	C/T	snv			4
rs869025431	FHL1	0.925	0.160	X	136209946	missense variant	G/A;C	snv		9.6E-06	2
rs1554401561	FLNC ; FLNC-AS1	1.000	0.080	7	128855243	missense variant	G/C	snv			1
rs104894845	GLA ; RPL36A-HNRNPH2	0.807	0.160	X	101401752	missense variant	C/G;T	snv	5.5E-04		2
rs587782951	JPH2	0.807	0.080	20	44160305	missense variant	G/T	snv			1
rs199472948	KCNH2	1.000	0.080	7	150951531	missense variant	C/T	snv			1
rs193922649	LAMP2	0.925	0.160	X	120449063	frameshift variant	T/-	del			2
rs879254614	LDLR	0.925	0.120	19	11105555	frameshift variant	-/T	ins			1
rs267607581	LMNA	0.925	0.080	1	156137651	splice region variant	C/G	snv			4
rs56851164	LMNA	1.000	0.080	1	156135940	missense variant	T/A	snv	5.6E-05	8.4E-05	1
rs193922681	LOC101928174 ; ACTC1	1.000	0.080	15	34794742	missense variant	A/G	snv			1
rs397516207	MHRT ; MIR208B ; MYH7	0.925	0.080	14	23417597	missense variant	C/T	snv			2
rs121913647	MHRT ; MYH7	0.925	0.160	14	23417173	missense variant	C/A;G;T	snv	1.6E-05		3
rs193922390	MHRT ; MYH7	0.882	0.080	14	23415651	missense variant	C/G;T	snv	4.0E-06; 2.0E-05		3
rs45544633	MHRT ; MYH7	1.000	0.080	14	23417174	missense variant	G/A	snv			3
rs121913650	MHRT ; MYH7	0.925	0.080	14	23415652	missense variant	G/A	snv		7.0E-06	2
rs1555336467	MHRT ; MYH7	1.000	0.080	14	23416211	inframe deletion	CTC/-	delins			1
rs727504385	MHRT ; MYH7	1.000	0.080	14	23415210	missense variant	T/C	snv			1
rs727503246	MIR208B ; MYH7	0.882	0.080	14	23418313	missense variant	C/T	snv		7.0E-06	4
rs730880781	MIR208B ; MYH7	1.000	0.080	14	23419949	missense variant	C/G;T	snv	4.0E-06		1
rs587782958	MYBPC3	0.790	0.120	11	47333552	splice region variant	C/T	snv	1.7E-05		10
rs121909374	MYBPC3	0.790	0.120	11	47342578	stop gained	C/A;G	snv	1.3E-05		6
rs36211723	MYBPC3	0.851	0.080	11	47338520	missense variant	C/G;T	snv	1.6E-05		5