DisGeNET - a database of gene-disease associations

List of associated variants

Creatine phosphokinase serum increased, C0241005

Source: INFERRED ×

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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
rs776474397	ANO5			11	22227300	splice acceptor variant	A/G	snv			1
rs886044915	ANO5			11	22236272	missense variant	A/C	snv			1
rs886044913	ASTN2 ; TRIM32			9	116699102	frameshift variant	-/TA	delins			1
rs116840786	CAV3 ; SSUH2			3	8733962	missense variant	C/A;T	snv			1
rs116840795	CAV3 ; SSUH2	1.000	0.120	3	8745580	missense variant	G/A	snv	1.2E-05	7.0E-06	1
rs1057516028	DMD			X	32287680	stop gained	G/A	snv			1
rs1114167437	DMD			X	31178681	frameshift variant	T/-	del			1
rs1114167439	DMD			X	32438240	splice donor variant	C/-	delins			1
rs1556980528	DMD			X	32738791	intron variant	T/C	snv			1
rs886044916	DMD			X	31209534	missense variant	T/C	snv			1
rs1567825175	GAA			17	80104590	stop gained	G/T	snv			1
rs1559697515	GMPPB			3	49723016	missense variant	T/C	snv			1
rs1555606976	TCAP			17	39665448	frameshift variant	GT/-	delins			1
rs1556880327	DMD			X	31774182	frameshift variant	-/T	delins			2
rs116840789	SSUH2 ; CAV3	0.925	0.080	3	8745547	missense variant	G/A;T	snv			2
rs768090444	CAPN3	1.000	0.120	15	42410645	stop gained	C/G;T	snv	4.0E-06	2.1E-05	3
rs886042604	DMD	1.000	0.120	X	33020138	splice donor variant	C/G;T	snv			3
rs375014127	ANO5	1.000	0.120	11	22262162	missense variant	G/A;T	snv	4.0E-06; 6.8E-05		4
rs1553846331	DOK7	0.925	0.120	4	3473504	missense variant	C/T	snv			4
rs756015202	DOK7	0.925	0.120	4	3493047	missense variant	C/T	snv	5.5E-06		4
rs200916654	DYSF	0.925	0.120	2	71551635	missense variant	T/C	snv	2.9E-05		4
rs398123383	LAMA2	1.000	0.120	6	129460287	stop gained	C/T	snv	1.6E-05	7.0E-06	4
rs143570936	SGCA	0.925	0.200	17	50169246	missense variant	G/A	snv	1.1E-04	1.8E-04	4
rs116840778	SSUH2 ; CAV3	0.882	0.200	3	8733956	missense variant	G/A;C	snv			4
rs1131692158	DYSF	1.000	0.120	2	71669207	missense variant	G/A;C	snv			5