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
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
rs1169089134	FOLH1	0.790	0.320	11	49206785	missense variant	C/G;T	snv			9
rs1188383936	F2	0.524	0.760	11	46725976	missense variant	C/T	snv	8.0E-06		102
rs1194897557	MTHFR	0.827	0.240	1	11796276	missense variant	A/G	snv	8.0E-06		7
rs1206846668	FOLH1	0.724	0.400	11	49185773	missense variant	G/A	snv	4.1E-06		16
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121964971	CBS	0.851	0.160	21	43058215	missense variant	G/A	snv	1.2E-05		5
rs1237063529	CBS	0.752	0.360	21	43058894	missense variant	T/G	snv	5.6E-06		13
rs1300260120	RAPGEF5	1.000	0.080	7	22193435	missense variant	G/A	snv			1
rs13306190	APOB	0.807	0.320	2	21032408	missense variant	G/A;C;T	snv	1.7E-04; 8.0E-06		7
rs1359880314	SLC19A1	0.763	0.320	21	45534541	synonymous variant	C/T	snv	1.6E-05	2.8E-05	12
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
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs1801198	TCN2	0.677	0.400	22	30615623	missense variant	G/A;C	snv	5.6E-05; 0.57		26
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs1941404	NNMT	0.882	0.120	11	114298316	non coding transcript exon variant	A/G	snv		0.59	3
rs201765376	MTR	0.732	0.360	1	236838504	synonymous variant	C/T	snv	1.6E-05	1.4E-05	12
rs333	CCR5 ; CCR5AS	0.667	0.520	3	46373453	frameshift variant	GTCAGTATCAATTCTGGAAGAATTTCCAGACA/-	delins		7.3E-02	23
rs368087026	SLC19A1	0.637	0.520	21	45530890	missense variant	G/A	snv			33