DisGeNET - a database of gene-disease associations

List of shared variants

BETHLEM MYOPATHY 1, C1834674

Disease: Ullrich congenital muscular dystrophy 1

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
rs121912938	COL6A1	0.882	0.160	21	45989129	missense variant	G/A	snv			3
rs121912939	COL6A1	0.882	0.160	21	45989617	missense variant	G/A;C;T	snv			3
rs267606748	COL6A2	0.882	0.160	21	46115917	missense variant	G/A	snv			3
rs398124119	COL6A3	0.882	0.160	2	237395121	stop gained	G/A	snv	4.4E-05	2.8E-05	3
rs398124126	COL6A3	0.882	0.160	2	237361120	splice donor variant	C/T	snv			3
rs764193290	COL6A3	0.882	0.160	2	237342163	splice acceptor variant	T/-	del	4.0E-06		3
rs797044988	COL6A3	0.882	0.160	2	237359390	splice acceptor variant	T/G	snv			3
rs267606747	COL6A2	0.925	0.160	21	46126144	missense variant	T/C	snv	4.0E-06		2
rs886043919	COL6A3	0.925	0.160	2	237359361	splice donor variant	C/A;T	snv			2