DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Gene: SCO2 ×

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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
rs74315511	NCAPH2 ; SCO2	0.925	0.240	22	50523994	missense variant	C/T	snv	8.0E-05	1.1E-04	4
rs761665644	TYMP ; SCO2	0.925	0.120	22	50527606	missense variant	T/G	snv	8.0E-06		4
rs1556488264	TYMP ; SCO2	0.925	0.120	22	50527165	inframe deletion	AGC/-	delins			4
rs74315510	NCAPH2 ; SCO2	0.925	0.240	22	50524255	stop gained	G/A	snv	8.4E-05	3.5E-05	2
rs74315512	NCAPH2 ; SCO2	1.000	0.200	22	50524144	stop gained	G/A	snv	1.6E-05		1
rs749838192	SCO2 ; NCAPH2			22	50524395	frameshift variant	-/TGAGTCACTGCTGCATGCT	ins	5.8E-04; 4.2E-06	8.9E-04	1
rs80358232	SCO2 ; NCAPH2	1.000	0.200	22	50523738	missense variant	G/A;T	snv	4.0E-06		1
rs28937868	SCO2 ; NCAPH2	1.000	0.200	22	50524014	missense variant	C/T	snv			1
rs121908508	SCO2 ; NCAPH2	1.000	0.200	22	50524305	stop gained	C/A;T	snv			1
rs28937598	SCO2 ; NCAPH2	1.000	0.200	22	50523901	missense variant	G/A	snv	1.2E-05	7.0E-06	1
rs1064792878	SCO2 ; TYMP	1.000		22	50526000	splice donor variant	C/T	snv		7.0E-06	1
rs1064792875	SCO2 ; TYMP	1.000		22	50525908	stop gained	C/T	snv			1
rs121913036	SCO2 ; TYMP	1.000		22	50526638	missense variant	T/G	snv	5.3E-05	4.9E-05	1
rs1064792867	SCO2 ; TYMP	1.000		22	50527611	missense variant	A/C	snv			1
rs1064792873	SCO2 ; TYMP	1.000		22	50526141	missense variant	C/T	snv			1
rs1064792889	SCO2 ; TYMP	1.000		22	50525908	frameshift variant	C/-	delins			1
rs1064792874	SCO2 ; TYMP	1.000		22	50526019	missense variant	C/T	snv			1
rs1060499532	SCO2 ; TYMP	1.000		22	50526338	missense variant	A/G	snv			1
rs1064792869	SCO2 ; TYMP	1.000		22	50527215	missense variant	C/T	snv			1
rs1064792888	SCO2 ; TYMP	1.000		22	50526720	frameshift variant	G/-	delins			1
rs946234163	SCO2 ; TYMP	1.000		22	50526639	missense variant	C/T	snv		7.0E-06	1
rs1060499533	SCO2 ; TYMP	1.000		22	50526293	missense variant	A/G	snv			1
rs1064792870	SCO2 ; TYMP	1.000		22	50527170	missense variant	T/G	snv		7.0E-06	1
rs1064792887	SCO2 ; TYMP	1.000		22	50527210	frameshift variant	G/-	delins			1
rs1064792865	SCO2 ; TYMP	1.000		22	50527716	start lost	A/C	snv			1