DisGeNET - a database of gene-disease associations

List of associated variants

X-Linked Dyskeratosis Congenita, C1148551

Source: BEFREE ×

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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
rs28936072	DKC1	0.851	0.200	X	154765472	missense variant	T/C	snv			2
rs121912288	SNORA56 ; DKC1	0.925	0.120	X	154773152	missense variant	C/T	snv			2
rs121912296	DKC1	0.925	0.120	X	154765474	missense variant	A/G	snv			1
rs121912306	DKC1	0.925	0.120	X	154765949	missense variant	C/T	snv			1
rs199422248	DKC1	0.925	0.120	X	154770784	missense variant	A/G	snv			1
rs199422252	SNORA56 ; DKC1	0.925	0.120	X	154774602	missense variant	G/A	snv			1