DisGeNET - a database of gene-disease associations

List of associated variants

Cardiomyopathies, C0878544

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs369566535	AARS2 ; TMEM151B	6	44304659	missense variant	G/A;C	snv	3.6E-05; 2.8E-05		1
rs1024095026	ABCC9	12	21887879	stop gained	G/A	snv	1.2E-05		1
rs1565477732	ABCC9	12	21912871	splice donor variant	C/T	snv			1
rs193922683	ABCC9	12	21852457	stop gained	G/A	snv	1.6E-05		1
rs1566967399	ACTC1 ; LOC101928174	15	34792158	missense variant	C/T	snv			1
rs769139957	ALPK3	15	84840691	frameshift variant	C/-;CC	delins			1
rs745743737	CAVIN4	9	100585774	missense variant	C/G;T	snv	8.0E-06; 3.6E-05		1
rs1786814	CELF4	18	37497065	intron variant	G/A;C	snv			1
rs202024436	CRYAB	11	111908969	splice acceptor variant	T/C	snv	3.6E-05	2.1E-05	1
rs397516686	CRYAB ; HSPB2-C11orf52 ; HSPB2	11	111911722	start lost	C/T	snv	6.7E-05	2.8E-05	1
rs1565050709	CSRP3	11	19186268	frameshift variant	G/-	delins			1
rs193922667	CSRP3	11	19186265	missense variant	C/T	snv	1.2E-05	4.2E-05	1
rs902082118	CSRP3	11	19186266	stop gained	G/A	snv	1.2E-05		1
rs193922708	DSC2	18	31086683	missense variant	G/A;T	snv	4.8E-05		1
rs1561686893	DSP	6	7567372	stop gained	C/T	snv			1
rs1561690319	DSP	6	7571506	stop gained	C/T	snv			1
rs1561698714	DSP	6	7580519	frameshift variant	-/A	delins			1
rs1561701721	DSP	6	7583201	frameshift variant	-/C	delins			1
rs1561702549	DSP	6	7583725	frameshift variant	G/CT	delins			1
rs193922668	DSP	6	7568551	inframe deletion	ATT/-	delins			1
rs193922671	DSP	6	7585226	missense variant	C/G	snv	5.2E-05	4.9E-05	1
rs730880092	DSP	6	7583572	frameshift variant	A/-	del	5.2E-05	2.8E-05	1
rs1286964261	EIF1AD ; BANF1	11	66003356	missense variant	G/A	snv		7.0E-06	1
rs148515772	EMD	X	154380902	missense variant	G/A	snv	8.2E-05	8.5E-05	1
rs2070818	EMD	X	154380798	missense variant	G/C	snv	4.6E-04	2.1E-04	1