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
rs397516059	MYBPC3	0.851	0.080	11	47349876	frameshift variant	-/A	delins	8.2E-06		5
rs397515966	MYBPC3	0.925	0.080	11	47337502	frameshift variant	-/A	delins	4.0E-06; 1.2E-05	7.0E-06	2
rs397516008	MYBPC3	0.925	0.080	11	47333297	frameshift variant	-/A	ins		7.0E-06	2
rs1565624090	MYBPC3	1.000	0.080	11	47335078	frameshift variant	-/A	delins			1
rs778568339	TCAP	0.925	0.080	17	39665382	frameshift variant	-/AGGTGTCG	delins	9.2E-05	1.4E-05	2
rs397515963	MYBPC3	0.851	0.080	11	47337729	frameshift variant	-/C	delins		2.1E-05	4
rs397515960	MYBPC3	0.925	0.080	11	47337791	frameshift variant	-/C	delins			3
rs397516014	MYBPC3	0.925	0.080	11	47333226	frameshift variant	-/C	delins	1.4E-05		2
rs727503174	MYBPC3	0.925	0.080	11	47333580	frameshift variant	-/C	delins			2
rs876657703	MYBPC3	0.925	0.080	11	47342842	frameshift variant	-/C	delins			2
rs1565625473	MYBPC3	1.000	0.080	11	47337725	frameshift variant	-/C	delins			1
rs1565626409	MYBPC3	1.000	0.080	11	47339714	frameshift variant	-/C	delins			1
rs869025468	MYBPC3	1.000	0.080	11	47333703	frameshift variant	-/C	delins			1
rs193922384	MYBPC3	0.882	0.080	11	47332126	inframe insertion	-/CAGACATAGATGCCCCCG	delins		2.8E-05	3
rs1565625777	MYBPC3	1.000	0.080	11	47338519	frameshift variant	-/CGAT	delins			1
rs397516007	MYBPC3	0.925	0.080	11	47333331	frameshift variant	-/G	delins			2
rs397516049	MYBPC3	0.925	0.080	11	47350082	frameshift variant	-/T	delins	3.0E-05	7.0E-06	3
rs730880720	MYBPC3	1.000	0.080	11	47332836	frameshift variant	-/T	delins			1
rs879254614	LDLR	0.925	0.120	19	11105555	frameshift variant	-/T	ins			1
rs794729138	PLN ; CEP85L	1.000	0.080	6	118558982	frameshift variant	-/TC	delins		7.0E-06	1
rs1064793202	MYBPC3	0.925	0.080	11	47333622	frameshift variant	-/TT	delins			2
rs397515934	MYBPC3	0.925	0.080	11	47341140	frameshift variant	A/-	del			3
rs876657705	MYBPC3	0.925	0.080	11	47335158	frameshift variant	A/-	del			2
rs727504331	TNNT2	0.925	0.080	1	201365242	missense variant	A/C	snv	8.0E-06		2
rs387906397	MYBPC3	0.851	0.080	11	47333192	splice donor variant	A/C;G	snv			4