DisGeNET - a database of gene-disease associations

List of associated variants

Hyperhomocysteinemia, C0598608

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
rs769737896	LDLR	0.851	0.080	19	11110759	stop gained	C/A;G;T	snv	4.0E-06; 4.0E-06; 8.0E-06		5
rs773371778	CETP	0.925	0.080	16	56972000	missense variant	C/T	snv	4.0E-06		2
rs9001	CHDH	0.925	0.080	3	53823890	missense variant	T/G	snv	0.15	0.17	2
rs1300260120	RAPGEF5	1.000	0.080	7	22193435	missense variant	G/A	snv			1
rs749213026	HPSE2	1.000	0.080	10	99235705	missense variant	A/G	snv	4.0E-06		1
rs1941404	NNMT	0.882	0.120	11	114298316	non coding transcript exon variant	A/G	snv		0.59	3
rs121964971	CBS	0.851	0.160	21	43058215	missense variant	G/A	snv	1.2E-05		5
rs694539	NNMT	0.776	0.200	11	114262697	intron variant	C/T	snv		0.21	10
rs1477196	FTO	0.851	0.200	16	53774346	intron variant	A/G	snv		0.71	7
rs162036	MTRR	0.827	0.200	5	7885846	missense variant	A/G	snv	0.18	0.21	6
rs765625943	MTHFR	0.882	0.200	1	11803417	missense variant	G/A	snv	4.3E-06		4
rs876657421	CBS	0.763	0.240	21	43063074	coding sequence variant	-/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG	delins			11
rs1194897557	MTHFR	0.827	0.240	1	11796276	missense variant	A/G	snv	8.0E-06		7
rs1359880314	SLC19A1	0.763	0.320	21	45534541	synonymous variant	C/T	snv	1.6E-05	2.8E-05	12
rs1169089134	FOLH1	0.790	0.320	11	49206785	missense variant	C/G;T	snv			9
rs13306190	APOB	0.807	0.320	2	21032408	missense variant	G/A;C;T	snv	1.7E-04; 8.0E-06		7
rs5742905	CBS	0.701	0.360	21	43063074	missense variant	A/G	snv			22
rs1237063529	CBS	0.752	0.360	21	43058894	missense variant	T/G	snv	5.6E-06		13
rs201765376	MTR	0.732	0.360	1	236838504	synonymous variant	C/T	snv	1.6E-05	1.4E-05	12
rs61886492	FOLH1	0.763	0.360	11	49164722	missense variant	G/A	snv	3.7E-02	4.0E-02	12
rs1801198	TCN2	0.677	0.400	22	30615623	missense variant	G/A;C	snv	5.6E-05; 0.57		26
rs375752214	NOS3	0.708	0.400	7	150998541	missense variant	C/T	snv	4.1E-06	4.2E-05	22
rs1206846668	FOLH1	0.724	0.400	11	49185773	missense variant	G/A	snv	4.1E-06		16
rs7096206	MBL2	0.708	0.480	10	52771925	upstream gene variant	G/A;C;T	snv			17
rs3733890	BHMT ; DMGDH	0.708	0.480	5	79126136	missense variant	G/A	snv	0.30	0.28	16