DisGeNET - a database of gene-disease associations

List of associated variants

Creatine phosphokinase serum increased, C0241005

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
rs886044913	ASTN2 ; TRIM32			9	116699102	frameshift variant	-/TA	delins			1
rs398123383	LAMA2	1.000	0.120	6	129460287	stop gained	C/T	snv	1.6E-05	7.0E-06	4
rs202247792	LAMA2	0.925	0.120	6	129486605	missense variant	T/C;G	snv	8.0E-06		5
rs1208636573	MSTO1 ; LOC105371452	0.807	0.120	1	155612098	stop gained	C/G;T	snv	4.0E-06; 4.0E-06		15
rs622288	MSTO1 ; LOC105371452	0.807	0.120	1	155612848	missense variant	C/T	snv	3.6E-05	4.2E-05	15
rs201518227	TOR1AIP1	1.000		1	179917914	missense variant	C/T	snv	3.2E-05	5.6E-05	13
rs752298579	TANGO2	0.701	0.480	22	20061538	missense variant	G/A	snv	1.4E-04	7.0E-06	48
rs1555452876	PKD1 ; MIR6511B1	1.000		16	2106222	inframe deletion	CTC/-	delins			5
rs137854521	ANO5	0.851	0.200	11	22221100	frameshift variant	-/A	delins			9
rs776474397	ANO5			11	22227300	splice acceptor variant	A/G	snv			1
rs886044915	ANO5			11	22236272	missense variant	A/C	snv			1
rs375014127	ANO5	1.000	0.120	11	22262162	missense variant	G/A;T	snv	4.0E-06; 6.8E-05		5
rs1114167437	DMD			X	31178681	frameshift variant	T/-	del			1
rs886044916	DMD			X	31209534	missense variant	T/C	snv			1
rs886039785	DMD	0.925	0.120	X	31496876	stop gained	C/T	snv			7
rs1556880327	DMD			X	31774182	frameshift variant	-/T	delins			2
rs1057516028	DMD			X	32287680	stop gained	G/A	snv			1
rs1114167439	DMD			X	32438240	splice donor variant	C/-	delins			1
rs1556980528	DMD			X	32738791	intron variant	T/C	snv			1
rs886042604	DMD	1.000	0.120	X	33020138	splice donor variant	C/G;T	snv			3
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
rs1555606976	TCAP			17	39665448	frameshift variant	GT/-	delins			1
rs142239530	STIM1	0.790	0.320	11	4091328	missense variant	C/G;T	snv	4.4E-05		24
rs80338800	LOC105370794 ; CAPN3	0.827	0.120	15	42387803	frameshift variant	A/-	delins			21