DisGeNET - a database of gene-disease associations

List of associated variants

Spina Bifida, C0080178

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
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29		113
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs780094	GCKR	0.658	0.400	2	27518370	intron variant	T/C	snv		0.67	62
rs2236225	MTHFD1	0.614	0.640	14	64442127	missense variant	G/A	snv	0.44	0.38	52
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
rs1137100	LEPR	0.627	0.640	1	65570758	missense variant	A/G	snv	0.30	0.25	39
rs11591147	PCSK9	0.677	0.360	1	55039974	missense variant	G/A;T	snv	1.2E-02		28
rs375752214	NOS3	0.708	0.400	7	150998541	missense variant	C/T	snv	4.1E-06	4.2E-05	22
rs3733890	BHMT ; DMGDH	0.708	0.480	5	79126136	missense variant	G/A	snv	0.30	0.28	16
rs749437638	ARVCF ; COMT	0.752	0.240	22	19968597	missense variant	C/T	snv	2.4E-05	1.4E-05	14
rs1135401743	HAAO ; MTA3	0.776	0.320	2	42769785	stop gained	C/A;T	snv	4.0E-06		11
rs737865	TXNRD2 ; COMT	0.763	0.240	22	19942598	intron variant	A/G	snv		0.23	11
rs431905509	SLC25A1	0.807	0.280	22	19176222	missense variant	G/A;C	snv	2.0E-05		8
rs202676	FOLH1	0.851	0.160	11	49206068	stop lost	A/G	snv	0.28	0.33	7
rs1555471098	CREBBP	0.925	0.120	16	3728852	frameshift variant	GCTGGGTGAGA/-	del			6
rs2486668	GRHL3	0.807	0.320	1	24331573	missense variant	C/G	snv	0.16	0.17	6
rs10380	MTRR	0.807	0.200	5	7897078	missense variant	C/T	snv	0.16	0.18	6
rs162036	MTRR	0.827	0.200	5	7885846	missense variant	A/G	snv	0.18	0.21	6