MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 985; N. variants: 137
Disease: Diastolic blood pressure ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs17367504
rs17367504 		1.000 0.040 1 11802721 intron variant A/G snv 0.14
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 4 2017 2018
dbSNP: rs13306556
rs13306556 		1 11792053 intron variant C/T snv 0.10
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs17037390
rs17037390 		1.000 0.040 1 11800786 non coding transcript exon variant G/A snv 0.18
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2016 2016
dbSNP: rs3753584
rs3753584 		0.827 0.080 1 11804529 5 prime UTR variant T/C snv 0.14
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs6541006
rs6541006 		1 11797469 intron variant A/G;T snv
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018