DisGeNET - a database of gene-disease associations

List of associated variants

Cerebral atrophy, C0235946

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
rs730882147	MED20	0.851	0.080	6	41909351	missense variant	C/G	snv		7.0E-06	5
rs878853324	PPT1	0.882	0.160	1	40078579	missense variant	A/T	snv			5
rs10761482	ANK3	0.851	0.120	10	60325579	intron variant	T/C	snv		0.70	4
rs1193124736	APP	0.851	0.120	21	25982462	missense variant	G/T	snv		7.0E-06	4
rs878853322	PPT1	0.925	0.160	1	40078573	missense variant	G/A	snv			4
rs878853323	PPT1	0.882	0.160	1	40092499	missense variant	A/G	snv			4
rs1133174	SORL1	0.882	0.120	11	121631046	3 prime UTR variant	G/A	snv		0.55	3
rs796052019	PCCA	0.882	0.160	13	100157297	missense variant	G/A;T	snv	4.0E-06		3
rs9637454	KCNMB2 ; KCNMB2-AS1	0.882	0.120	3	178539774	intron variant	G/A	snv		0.23	3
rs4935774	LOC105369536 ; SORL1	0.925	0.080	11	121451045	intron variant	T/C	snv		0.32	2
rs796052243	SPATA5	0.695	0.520	4	122934574	inframe deletion	CAA/-	delins			54
rs776969714	SEPSECS	0.752	0.240	4	25145129	splice acceptor variant	-/C	delins		4.2E-05	34
rs1057516264	TPP1	0.776	0.280	11	6614968	frameshift variant	C/-;CC	delins			13
rs869320624	EMC1-AS1 ; EMC1	0.776	0.400	1	19220814	frameshift variant	AAGG/-	delins		1.4E-05	13
rs1554901898	TPP1	0.776	0.280	11	6616858	frameshift variant	A/-	delins			12
rs878853325	PPT1	0.851	0.240	1	40089414	frameshift variant	C/-	delins			6
rs1555642784	CNTNAP1	0.851	0.160	17	42688979	frameshift variant	-/C	delins			5
rs895293055	MED20	0.851	0.080	6	41909351	frameshift variant	C/-	delins			5
rs1554902217	TPP1	0.851	0.160	11	6618821	frameshift variant	A/-	del			7