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
rs121909529	ACTA1	1.000	0.080	1	229431830	missense variant	T/A	snv			1
rs121909530	ACTA1	1.000	0.080	1	229432134	missense variant	A/G	snv			1
rs121909531	ACTA1	1.000	0.080	1	229431633	missense variant	G/A	snv			1
rs367543050	ACTA1	1.000	0.080	1	229432181	missense variant	C/G	snv			1
rs367543051	ACTA1	0.925	0.080	1	229432075	missense variant	C/T	snv			1
rs111364670	RYR1	1.000	0.080	19	38510566	splice donor variant	G/A;T	snv			1
rs143849895	RYR1	1.000	0.080	19	38566953	stop gained	G/A;C;T	snv	3.4E-05		1
rs367543054	RYR1	1.000	0.080	19	38446706	stop gained	T/G	snv			1
rs367543055	RYR1	1.000	0.080	19	38485988	stop gained	C/A;T	snv	4.1E-06		1
rs367543056	RYR1	0.925	0.160	19	38490709	missense variant	A/T	snv			1
rs367543057	RYR1	0.925	0.160	19	38517651	missense variant	C/A	snv			1
rs1553198464	SELENON	1.000	0.080	1	25800218	start lost	AGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCC/-	delins			1
rs797045950	SELENON	1.000	0.080	1	25809104	protein altering variant	-/CCT	delins			1
rs1553251644	TPM3	1.000	0.080	1	154191976	missense variant	C/G	snv			1
rs199474711	TPM3	1.000	0.080	1	154192008	missense variant	G/A	snv			1
rs199474713	TPM3	1.000	0.080	1	154176220	missense variant	C/G	snv			1
rs199474715	TPM3	1.000	0.080	1	154172969	missense variant	T/C	snv			1
rs199474717	TPM3	1.000	0.080	1	154170454	missense variant	C/T	snv			1
rs199474718	TPM3	1.000	0.080	1	154170442	missense variant	T/C	snv			1
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
rs121964853	TPM3	0.925	0.080	1	154176194	missense variant	G/C;T	snv			2
rs1553248515	TPM3	0.925	0.080	1	154170417	missense variant	G/T	snv			2