DisGeNET - a database of gene-disease associations

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1057518834	DMD		X	32849737	frameshift variant	C/-	delins			9
rs4363657	SLCO1B1		12	21215788	intron variant	T/C	snv		0.18	5
rs760361706	PPARA		22	46235326	missense variant	G/C	snv	4.0E-06		4
rs1057518905	DPM3		1	155140104	missense variant	A/T	snv			3
rs1555420508	LOC105370794 ; CAPN3		15	42387891	splice region variant	G/A	snv			3
rs387906587	FLNC	1.000	7	128835550	missense variant	G/A	snv			3
rs564856283	MYBPC1		12	101642495	missense variant	G/A;C	snv	3.2E-05		3
rs757725417	IMMT		2	86144399	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		3
rs104894294	RAPSN	1.000	11	47447853	missense variant	G/A	snv	2.0E-05	2.1E-05	2
rs122458142	FHL1	1.000	X	136207827	missense variant	C/T	snv			2
rs122458143	FHL1	1.000	X	136207855	missense variant	G/T	snv			2
rs137854430	TK2	1.000	16	66513795	missense variant	A/T	snv			2
rs149278319	DNAJB6	1.000	7	157367416	missense variant	C/A;G;T	snv	4.0E-06; 1.4E-03		2
rs371855540	MHRT ; MYH7		14	23415095	missense variant	C/T	snv	2.0E-05	3.5E-05	2
rs387907046	DNAJB6	1.000	7	157367414	missense variant	T/C	snv			2
rs387907047	DNAJB6	1.000	7	157367424	missense variant	C/G	snv			2
rs730882052	CASQ1	1.000	1	160195976	missense variant	A/G	snv			2
rs747453853	CHEK2 ; HSCB		22	28742247	missense variant	G/A	snv	4.0E-06		2
rs869320700	DNAJB6	1.000	7	157367435	missense variant	T/G	snv			2
rs1057518773	RYR1		19	38505868	stop gained	G/A	snv			1
rs1057518851	TTN ; TTN-AS1		2	178571565	stop gained	C/T	snv			1
rs1057518855	ANO5		11	22270443	splice donor variant	-/T	delins			1
rs1057518866	DMD		X	32343174	stop gained	A/C	snv			1
rs10871700			18	72302261	intergenic variant	A/G	snv		0.72	1
rs10872257			6	122969896	intergenic variant	C/T	snv		0.44	1