DisGeNET - a database of gene-disease associations

List of associated variants

Dyskeratosis Congenita, C0265965

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
rs121918544	TINF2	0.827	0.200	14	24240635	missense variant	C/T	snv			6
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
rs199701877	TERT	0.925	0.200	5	1294048	missense variant	C/T	snv	2.8E-04	1.7E-04	2
rs886039438	TERT	0.925	0.360	5	1282498	missense variant	G/A	snv		7.0E-06	2
rs121918543	TINF2	0.882	0.200	14	24240642	stop gained	T/A;C	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
rs199422243	DKC1	1.000	0.120	X	154765486	missense variant	A/G	snv			1
rs199422248	DKC1	0.925	0.120	X	154770784	missense variant	A/G	snv			1
rs121908091	NHP2 ; RMND5B	0.925	0.120	5	178149715	stop lost	A/T	snv			1
rs1226276218	PARD6A ; ACD	1.000	0.120	16	67659943	stop gained	G/A;C	snv			1
rs199422252	SNORA56 ; DKC1	0.925	0.120	X	154774602	missense variant	G/A	snv			1
rs199422295	TERT	0.882	0.120	5	1279376	missense variant	C/T	snv			1
rs35719940	TERT	0.925	0.160	5	1254479	missense variant	C/T	snv	1.2E-02	1.3E-02	1
rs121918545	TINF2	0.925	0.120	14	24240636	missense variant	G/A;T	snv			1
rs1213207387	WRAP53 ; TP53	1.000	0.120	17	7689255	stop gained	C/G;T	snv	4.0E-06		1