DisGeNET - a database of gene-disease associations

List of associated variants

Neural Tube Defects, C0027794

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
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
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
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs9939609	FTO	0.559	0.720	16	53786615	intron variant	T/A	snv		0.41	98
rs780094	GCKR	0.658	0.400	2	27518370	intron variant	T/C	snv		0.67	62
rs11549465	HIF1A-AS3 ; HIF1A	0.597	0.680	14	61740839	missense variant	C/T	snv	8.8E-02	7.7E-02	55
rs2236225	MTHFD1	0.614	0.640	14	64442127	missense variant	G/A	snv	0.44	0.38	52
rs1979277	SHMT1	0.620	0.560	17	18328782	missense variant	G/A	snv	0.27	0.31	45
rs1051266	SLC19A1	0.627	0.640	21	45537880	missense variant	T/C;G	snv	0.55; 4.4E-06		41
rs777919630	CBS	0.623	0.680	21	43062358	missense variant	G/A;T	snv	8.0E-06; 4.0E-06		40
rs775144154	SLC19A1	0.627	0.600	21	45531904	missense variant	C/A;T	snv	9.7E-06; 1.4E-05		38
rs368087026	SLC19A1	0.637	0.520	21	45530890	missense variant	G/A	snv			33
rs8050136	FTO	0.716	0.560	16	53782363	intron variant	C/A	snv		0.40	32
rs9282861	SULT1A1	0.658	0.440	16	28606193	missense variant	C/T	snv			31
rs1421085	FTO	0.752	0.280	16	53767042	intron variant	T/C	snv		0.31	28
rs11591147	PCSK9	0.677	0.360	1	55039974	missense variant	G/A;T	snv	1.2E-02		28
rs1801198	TCN2	0.677	0.400	22	30615623	missense variant	G/A;C	snv	5.6E-05; 0.57		26
rs4633	COMT ; MIR4761	0.695	0.400	22	19962712	synonymous variant	C/T	snv	0.46	0.45	25
rs660339	UCP2	0.695	0.320	11	73978059	missense variant	G/A	snv	0.41	0.43	24
rs375752214	NOS3	0.708	0.400	7	150998541	missense variant	C/T	snv	4.1E-06	4.2E-05	22
rs1039659576	MTR	0.689	0.520	1	236803473	missense variant	A/G	snv			21