DisGeNET - a database of gene-disease associations

List of associated variants

Congenital Fiber Type Disproportion, C0546264

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
rs121908188	SELENON	0.742	0.360	1	25809753	missense variant	G/A;C	snv	1.8E-04		25
rs199564797	SELENON	0.742	0.360	1	25809150	missense variant	G/A	snv	1.2E-05	1.4E-05	25
rs745886248	SELENON	0.742	0.360	1	25811710	missense variant	G/A;C;T	snv	4.3E-06; 4.3E-06; 4.3E-06		25
rs3218716	MYH7	0.716	0.280	14	23425316	missense variant	C/A;G;T	snv	4.0E-06; 2.4E-05		17
rs121913628	MYH7	0.763	0.160	14	23424059	missense variant	C/G;T	snv			10
rs3218713	MYH7	0.763	0.160	14	23431468	missense variant	C/A;T	snv			10
rs267606908	MYH7	0.763	0.160	14	23424112	missense variant	T/C	snv	4.0E-06	7.0E-06	9
rs3218714	MYH7	0.763	0.160	14	23429279	missense variant	G/A;C	snv			9
rs371898076	MYH7	0.763	0.160	14	23426833	missense variant	C/T	snv	8.0E-06	4.9E-05	9
rs397516127	MYH7	0.763	0.160	14	23426834	missense variant	G/A;C	snv			9
rs397516171	MYH7	0.763	0.160	14	23424041	missense variant	C/G;T	snv			9
rs397516264	MYH7	0.763	0.160	14	23431602	missense variant	C/T	snv	4.0E-06		9
rs397516248	MYH7 ; MHRT	0.851	0.200	14	23415153	missense variant	C/T	snv			5
rs367543052	MHRT ; MYH7	0.882	0.160	14	23415476	inframe deletion	TCT/-;TCTTCT	delins			4
rs111436401	RYR1	0.851	0.160	19	38523116	splice donor variant	G/A	snv	4.0E-06		4
rs118192140	RYR1	0.851	0.160	19	38573304	missense variant	C/T	snv	4.4E-05	4.2E-05	4
rs193922837	RYR1	0.851	0.160	19	38523211	splice region variant	C/G	snv	2.0E-05	9.8E-05	4
rs377178986	RYR1	0.851	0.160	19	38543420	stop gained	C/A	snv	2.4E-05	3.5E-05	4
rs104894129	TPM2	0.851	0.120	9	35685672	missense variant	C/T	snv			3
rs121964852	TPM3	0.851	0.080	1	154172971	missense variant	C/T	snv			3
rs121964854	TPM3	0.882	0.080	1	154172972	missense variant	G/A;C	snv			3
rs367543048	ACTA1	0.925	0.080	1	229433100	stop gained	C/A;T	snv	4.0E-06		2
rs367543049	ACTA1	0.925	0.080	1	229432867	missense variant	C/T	snv			2
rs118192117	RYR1	0.882	0.160	19	38451846	missense variant	T/C	snv	4.0E-06		2
rs367543058	RYR1	0.882	0.160	19	38519399	missense variant	T/G	snv	2.2E-05	4.9E-05	2