DisGeNET - a database of gene-disease associations

List of associated variants

Rotator cuff syndrome, C0263912

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
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
rs1800469	B9D2 ; TGFB1	0.547	0.760	19	41354391	intron variant	A/G	snv		0.69	78
rs1799750	WTAPP1 ; MMP1	0.592	0.760	11	102799765	intron variant	C/-	delins		0.50	48
rs3025058	MMP3	0.658	0.600	11	102845217	upstream gene variant	-/C;G	ins		2.8E-04	26
rs1590	TGFBR1	0.882	0.120	9	99153883	3 prime UTR variant	T/C;G	snv			5
rs3196378	LOC101448202 ; COL5A1	0.882	0.080	9	134843036	3 prime UTR variant	C/A;G;T	snv			4
rs820218	SAP30BP	1.000	0.040	17	75691415	non coding transcript exon variant	G/A	snv	0.27	0.28	1
rs12527089	SASH1	1.000	0.040	6	148466023	intron variant	C/T	snv		4.5E-02	1