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	Num. diseases
rs1555735545	STRN4 ; FKRP	0.851	0.160	19	46746071	5 prime UTR variant	G/A	snv	22
rs80338800	LOC105370794 ; CAPN3	0.827	0.120	15	42387803	frameshift variant	A/-	delins	21
rs137854521	ANO5	0.851	0.200	11	22221100	frameshift variant	-/A	delins	9
rs914586984	LOC105371858 ; SCN4A	1.000	0.120	17	63959275	missense variant	G/C;T	snv	9
rs886039785	DMD	0.925	0.120	X	31496876	stop gained	C/T	snv	7
rs1131692158	DYSF	1.000	0.120	2	71669207	missense variant	G/A;C	snv	5
rs1553521119	DYSF	0.925	0.120	2	71513892	frameshift variant	C/-	del	5
rs1555452876	PKD1 ; MIR6511B1	1.000		16	2106222	inframe deletion	CTC/-	delins	5
rs116840778	SSUH2 ; CAV3	0.882	0.200	3	8733956	missense variant	G/A;C	snv	4
rs1553846331	DOK7	0.925	0.120	4	3473504	missense variant	C/T	snv	4
rs886042604	DMD	1.000	0.120	X	33020138	splice donor variant	C/G;T	snv	3
rs116840789	SSUH2 ; CAV3	0.925	0.080	3	8745547	missense variant	G/A;T	snv	2
rs1556880327	DMD			X	31774182	frameshift variant	-/T	delins	2
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
rs116840786	CAV3 ; SSUH2			3	8733962	missense variant	C/A;T	snv	1
rs1555606976	TCAP			17	39665448	frameshift variant	GT/-	delins	1
rs1556980528	DMD			X	32738791	intron variant	T/C	snv	1
rs1559697515	GMPPB			3	49723016	missense variant	T/C	snv	1
rs1567825175	GAA			17	80104590	stop gained	G/T	snv	1
rs776474397	ANO5			11	22227300	splice acceptor variant	A/G	snv	1
rs886044913	ASTN2 ; TRIM32			9	116699102	frameshift variant	-/TA	delins	1
rs886044915	ANO5			11	22236272	missense variant	A/C	snv	1
rs886044916	DMD			X	31209534	missense variant	T/C	snv	1