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

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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
SNP	Position	Alelle	Gene	Annotation	Info	Or	Se	P-value	eQTL	Score^*

Showing 1 to 10 of 54 entries

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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