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
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs899127658	F2	0.547	0.720	11	46739084	missense variant	G/A;C	snv			82
rs4646903	CYP1A1	0.630	0.640	15	74719300	downstream gene variant	A/G;T	snv		0.18	36
rs368087026	SLC19A1	0.637	0.520	21	45530890	missense variant	G/A	snv			33
rs333	CCR5 ; CCR5AS	0.667	0.520	3	46373453	frameshift variant	GTCAGTATCAATTCTGGAAGAATTTCCAGACA/-	delins		7.3E-02	23
rs5742905	CBS	0.701	0.360	21	43063074	missense variant	A/G	snv			22
rs7096206	MBL2	0.708	0.480	10	52771925	upstream gene variant	G/A;C;T	snv			17
rs876657421	CBS	0.763	0.240	21	43063074	coding sequence variant	-/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG	delins			11
rs694539	NNMT	0.776	0.200	11	114262697	intron variant	C/T	snv		0.21	10
rs1169089134	FOLH1	0.790	0.320	11	49206785	missense variant	C/G;T	snv			9
rs1477196	FTO	0.851	0.200	16	53774346	intron variant	A/G	snv		0.71	7
rs1941404	NNMT	0.882	0.120	11	114298316	non coding transcript exon variant	A/G	snv		0.59	3
rs1300260120	RAPGEF5	1.000	0.080	7	22193435	missense variant	G/A	snv			1
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs773371778	CETP	0.925	0.080	16	56972000	missense variant	C/T	snv	4.0E-06		2
rs751377893	F5	0.574	0.680	1	169546513	missense variant	T/C	snv	4.0E-06		65
rs749213026	HPSE2	1.000	0.080	10	99235705	missense variant	A/G	snv	4.0E-06		1
rs763351020	SERPINE1	0.633	0.560	7	101132046	missense variant	C/T	snv	4.0E-06		35
rs777919630	CBS	0.623	0.680	21	43062358	missense variant	G/A;T	snv	8.0E-06; 4.0E-06		40
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
rs1206846668	FOLH1	0.724	0.400	11	49185773	missense variant	G/A	snv	4.1E-06		16
rs375752214	NOS3	0.708	0.400	7	150998541	missense variant	C/T	snv	4.1E-06	4.2E-05	22
rs765625943	MTHFR	0.882	0.200	1	11803417	missense variant	G/A	snv	4.3E-06		4
rs1237063529	CBS	0.752	0.360	21	43058894	missense variant	T/G	snv	5.6E-06		13
rs1194897557	MTHFR	0.827	0.240	1	11796276	missense variant	A/G	snv	8.0E-06		7