DisGeNET - a database of gene-disease associations

List of associated variants

Homocystinuria, Pyridoxine-Responsive, C3502110

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
rs5742905	CBS	0.701	0.360	21	43063074	missense variant	A/G	snv			22
rs876657421	CBS	0.763	0.240	21	43063074	coding sequence variant	-/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG	delins			11
rs121964964	CBS	0.851	0.160	21	43066353	missense variant	G/A;C	snv	2.1E-04		4
rs28934891	CBS	0.851	0.160	21	43058862	missense variant	C/T	snv	3.3E-04		4
rs121964969	CBS	0.882	0.160	21	43063931	missense variant	C/T	snv	8.0E-06		3
rs375846341	CBS	0.882	0.160	21	43058970	splice acceptor variant	T/G	snv	7.9E-05		3
rs121964963	CBS	0.925	0.160	21	43066260	missense variant	G/A	snv	4.0E-06		2
rs121964965	CBS	0.925	0.160	21	43066279	missense variant	C/T	snv	2.8E-05		2
rs121964966	CBS	0.925	0.160	21	43066264	missense variant	C/G;T	snv	6.4E-05; 2.8E-05		2
rs121964967	CBS	0.925	0.160	21	43059299	missense variant	T/C	snv			2
rs121964970	CBS	0.925	0.160	21	43065645	missense variant	C/A;T	snv	5.4E-06; 1.1E-05		2