DisGeNET - a database of gene-disease associations

List of shared variants

Neural Tube Defects, C0027794

Disease: Childhood Acute Lymphoblastic Leukemia

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
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
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
rs775144154	SLC19A1	0.627	0.600	21	45531904	missense variant	C/A;T	snv	9.7E-06; 1.4E-05		38
rs1039659576	MTR	0.689	0.520	1	236803473	missense variant	A/G	snv			21
rs1206846668	FOLH1	0.724	0.400	11	49185773	missense variant	G/A	snv	4.1E-06		16
rs3733890	BHMT ; DMGDH	0.708	0.480	5	79126136	missense variant	G/A	snv	0.30	0.28	16
rs368939818	FOLH1	0.763	0.280	11	49156734	missense variant	G/A	snv	4.0E-05	2.1E-05	13
rs755001634	FOLH1	0.763	0.280	11	49154384	stop gained	G/A	snv	1.2E-05		13