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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs751377893	F5	0.574	0.680	1	169546513	missense variant	T/C	snv	4.0E-06		65
rs201765376	MTR	0.732	0.360	1	236838504	synonymous variant	C/T	snv	1.6E-05	1.4E-05	12
rs1194897557	MTHFR	0.827	0.240	1	11796276	missense variant	A/G	snv	8.0E-06		7
rs765625943	MTHFR	0.882	0.200	1	11803417	missense variant	G/A	snv	4.3E-06		4
rs13306190	APOB	0.807	0.320	2	21032408	missense variant	G/A;C;T	snv	1.7E-04; 8.0E-06		7
rs333	CCR5 ; CCR5AS	0.667	0.520	3	46373453	frameshift variant	GTCAGTATCAATTCTGGAAGAATTTCCAGACA/-	delins		7.3E-02	23
rs9001	CHDH	0.925	0.080	3	53823890	missense variant	T/G	snv	0.15	0.17	2
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs3733890	BHMT ; DMGDH	0.708	0.480	5	79126136	missense variant	G/A	snv	0.30	0.28	16
rs162036	MTRR	0.827	0.200	5	7885846	missense variant	A/G	snv	0.18	0.21	6
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs763351020	SERPINE1	0.633	0.560	7	101132046	missense variant	C/T	snv	4.0E-06		35
rs375752214	NOS3	0.708	0.400	7	150998541	missense variant	C/T	snv	4.1E-06	4.2E-05	22
rs1300260120	RAPGEF5	1.000	0.080	7	22193435	missense variant	G/A	snv			1
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
rs7096206	MBL2	0.708	0.480	10	52771925	upstream gene variant	G/A;C;T	snv			17
rs749213026	HPSE2	1.000	0.080	10	99235705	missense variant	A/G	snv	4.0E-06		1