MTHFR

Basic Information

Gene Symbol	MTHFR
Entrez Id	4524
Position	chr1:11845787..11866160
Description	methylenetetrahydrofolate reductase (NAD(P)H)
Gene type	protein-coding

SNP Information

SNP	Position	Alelle	Gene	Annotation	Info	Or	Se	P-value	eQTL	Score^*
rs111847924	1:11859747	A/G	MTHFR	intron	1.000	0.99551	0.0246	0.8533		7
rs12121543	1:11854671	A/C	MTHFR	intron	0.980	0.97492	0.0122	0.03742		1f
rs13306553	1:11860117	A/G	MTHFR	intron	0.988	1.02932	0.0172	0.09353		7
rs13306556	1:11852110	T/C	MTHFR	intron	0.991	0.97161	0.0172	0.09382		7
rs13306567	1:11860465	C/G	MTHFR	intron	1.000	1.00471	0.0246	0.8495		7
rs1572151	1:11857711	T/C	MTHFR	intron	0.980	0.98344	0.0206	0.4181		2b
rs17037388	1:11858036	A/G	MTHFR	intron	0.977	1.02132	0.0148	0.154		4
rs17037390	1:11860843	A/G	MTHFR	intron	0.988	0.97707	0.0146	0.1129		4
rs17037396	1:11862047	T/C	MTHFR	intron	0.986	0.97375	0.0172	0.1207		6
rs17037397	1:11862163	A/C	MTHFR	intron	0.997	0.96783	0.0243	0.1784		5
rs17367504	1:11862778	A/G	MTHFR	intron	0.992	1.02706	0.0147	0.06891		4
rs17375901	1:11852516	T/C	MTHFR	intron	0.992	0.98324	0.0231	0.4643		5
rs17421462	1:11856847	A/G	MTHFR	intron	0.973	1.01745	0.0209	0.407		4
rs17421511	1:11857788	A/G	MTHFR	intron	0.990	0.98030	0.0141	0.158		4
rs17421560	1:11858324	A/G	MTHFR	intron	0.988	0.97093	0.0172	0.08689		5
rs1801131	1:11854476	T/G	MTHFR	missense	0.993	1.02491	0.0113	0.02967		1f
rs1801133	1:11856378	A/G	MTHFR	missense	0.968	1.00682	0.0115	0.5506		4
rs182261953	1:11851190	A/G	MTHFR	intron	0.610	0.96628	0.0581	0.5556		-
rs1994798	1:11854755	A/G	MTHFR	intron	0.970	1.02020	0.0109	0.06648		1f
rs2066462	1:11854896	A/G	MTHFR	coding-synon	0.990	0.97219	0.0173	0.1019		5
rs2066470	1:11863057	A/G	MTHFR	coding-synon,untranslated-5	0.991	0.96764	0.0174	0.05857		4
rs2066471	1:11860458	T/C	MTHFR	intron	0.988	0.97863	0.0141	0.1254		7
rs2274976	1:11850927	T/C	MTHFR	missense	0.996	0.96590	0.0245	0.1558		4
rs35464336	1:11860807	T/C	MTHFR	intron	0.989	0.97161	0.0172	0.09482		4
rs35593468	1:11860684	A/G	MTHFR	intron	0.997	1.00753	0.0294	0.7992		6
rs35737219	1:11850750	A/G	MTHFR	missense	0.928	1.01025	0.0325	0.7529		4
rs3818762	1:11851003	C/G	MTHFR	intron	0.984	0.97560	0.0117	0.03527		1f
rs41394446	1:11851927	T/C	MTHFR	intron	0.636	1.02429	0.0331	0.4681		5
rs41452445	1:11858584	T/C	MTHFR	intron	0.991	1.00733	0.0244	0.7638		2b
rs45439601	1:11856084	A/G	MTHFR	intron	0.992	0.98334	0.0232	0.4685		5
rs45449597	1:11857925	A/C	MTHFR	intron	0.981	0.98246	0.0143	0.2159		4
rs45468191	1:11859042	A/G	MTHFR	intron	0.999	1.00451	0.0246	0.8536		7
rs45475403	1:11857207	T/C	MTHFR	intron	0.996	0.99432	0.0246	0.8173		7
rs45495691	1:11855897	A/C	MTHFR	intron	0.979	0.98413	0.0209	0.4423		7
rs45504202	1:11858550	T/C	MTHFR	intron	0.991	0.98089	0.0141	0.1691		4
rs45518732	1:11859877	T/C	MTHFR	intron	0.720	0.96483	0.0403	0.3738		7
rs45525835	1:11852898	C/G	MTHFR	intron	0.647	1.06078	0.0473	0.2122		5
rs45532338	1:11859908	T/C	MTHFR	intron	0.984	0.99233	0.0242	0.751		7
rs45533333	1:11858403	T/C	MTHFR	intron	0.997	0.99491	0.0246	0.8352		5
rs45553335	1:11858957	T/C	MTHFR	intron	0.986	1.02286	0.0147	0.1236		7
rs45577533	1:11857576	T/C	MTHFR	intron	0.996	1.00481	0.0246	0.8461		2b
rs45603435	1:11861855	A/G	MTHFR	intron	0.989	1.02286	0.0146	0.1222		6
rs45608437	1:11857926	A/G	MTHFR	intron	0.978	0.98255	0.0143	0.217		4
rs4846049	1:11850365	T/G	MTHFR	untranslated-3	0.990	0.97336	0.0113	0.01639		7
rs4846052	1:11857951	T/C	MTHFR	intron	0.990	0.98177	0.0108	0.08842		1f
rs6541003	1:11855867	A/G	MTHFR	intron	0.991	1.02041	0.0108	0.06129		6
rs6541005	1:11857525	A/T	MTHFR	intron	0.913	0.98147	0.0111	0.09098		6
rs6541006	1:11857526	A/T	MTHFR	intron	0.763	0.99661	0.0215	0.8725		6
rs72640233	1:11858363	T/C	MTHFR	intron	0.621	0.98857	0.0458	0.8022		5
rs74683406	1:11859636	A/G	MTHFR	intron	1.000	0.99541	0.0246	0.851		7
rs77078602	1:11859390	T/C	MTHFR	intron	1.000	1.00461	0.0246	0.8529		7
rs80038130	1:11859606	T/G	MTHFR	intron	1.000	1.00461	0.0246	0.8514		7
rs80307360	1:11859132	T/C	MTHFR	intron	0.997	0.99521	0.0246	0.8447		6
rs9651118	1:11862214	T/C	MTHFR	intron	0.969	0.98738	0.0126	0.3131		5
SNP	Position	Alelle	Gene	Annotation	Info	Or	Se	P-value	eQTL	Score^*

Note: RegulomeDB score^*

score	supporting data	score	supporting data
1a	eQTL + TF binding + matched TF motif + matched DNase Footprint + DNase peak	6	other
2a	TF binding + matched TF motif + matched DNase Footprint + DNase peak	5	TF binding or DNase peak
1b	eQTL + TF binding + any motif + DNase Footprint + DNase peak	4	TF binding + DNase peak
2b	TF binding + any motif + DNase Footprint + DNase peak	3b	TF binding + matched TF motif
1c	eQTL + TF binding + matched TF motif + DNase peak	1f	eQTL + TF binding / DNase peak
2c	TF binding + matched TF motif + DNase peak	3a	TF binding + any motif + DNase peak
1d	eQTL + TF binding + any motif + DNase peak	1e	eQTL + TF binding + matched TF motif

CNV Information

The gene is not affected by CNV!

eQTL Information