DisGeNET - a database of gene-disease associations

List of associated variants

X-Linked Dyskeratosis Congenita, C1148551

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 GENOME	Num. diseases
rs1114167422	SNORA56 ; DKC1	0.776	0.320	X	154773148	missense variant	A/G	snv		11
rs28936072	DKC1	0.851	0.200	X	154765472	missense variant	T/C	snv		4
rs121912290	DKC1	0.925	0.120	X	154770792	missense variant	C/G;T	snv		2
rs121912291	DKC1	0.925	0.120	X	154770808	missense variant	G/A	snv		2
rs121912292	DKC1	0.925	0.120	X	154765478	missense variant	C/G	snv		2
rs121912293	DKC1	0.925	0.120	X	154765465	missense variant	T/G	snv		2
rs121912296	DKC1	0.925	0.120	X	154765474	missense variant	A/G	snv		2
rs121912297	DKC1	0.925	0.120	X	154765931	missense variant	A/G	snv		2
rs121912301	DKC1	0.925	0.120	X	154765929	missense variant	G/C	snv		2
rs121912302	DKC1	0.925	0.120	X	154765480	missense variant	G/A	snv		2
rs121912303	DKC1	0.925	0.120	X	154762970	missense variant	C/T	snv		2
rs121912304	DKC1	0.925	0.120	X	154765505	missense variant	C/T	snv		2
rs121912305	DKC1	0.925	0.120	X	154766313	missense variant	A/G	snv		2
rs121912306	DKC1	0.925	0.120	X	154765949	missense variant	C/T	snv		2
rs137854489	DKC1	0.925	0.120	X	154765466	inframe deletion	CTT/-	delins		2
rs137854491	DKC1	0.925	0.120	X	154765450	missense variant	C/A;G	snv		2
rs199422241	DKC1	0.925	0.120	X	154762824	5 prime UTR variant	C/G	snv	2.3E-03	2
rs199422248	DKC1	0.925	0.120	X	154770784	missense variant	A/G	snv		2
rs2728726	DKC1	0.925	0.120	X	154770804	missense variant	C/A;G	snv		2
rs121912295	DKC1 ; SNORA56	0.925	0.120	X	154774651	missense variant	G/A	snv		2
rs121912298	DKC1 ; SNORA56	0.925	0.120	X	154773144	missense variant	G/A	snv		2
rs121912300	DKC1 ; SNORA56	0.925	0.120	X	154773143	missense variant	T/C	snv		2
rs121912288	SNORA56 ; DKC1	0.925	0.120	X	154773152	missense variant	C/T	snv		2
rs121912289	SNORA56 ; DKC1	0.925	0.120	X	154774672	missense variant	C/T	snv		2
rs121912299	SNORA56 ; DKC1	0.925	0.120	X	154774650	missense variant	G/A	snv		2