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 EXOME	AF GENOME	Num. diseases
rs1557264102	DKC1	1.000	0.120	X	154765938	missense variant	A/G	snv			1
rs1557265435	DKC1 ; SNORA56	1.000	0.120	X	154774701	missense variant	T/A	snv			1
rs1569558616	DKC1 ; SNORA56	1.000	0.120	X	154774706	splice donor variant	G/A	snv			1
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
rs199422252	SNORA56 ; DKC1	0.925	0.120	X	154774602	missense variant	G/A	snv			2
rs2728726	DKC1	0.925	0.120	X	154770804	missense variant	C/A;G	snv			2
rs28936072	DKC1	0.851	0.200	X	154765472	missense variant	T/C	snv			4