Gene: MTHFR ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs17367504
rs17367504
MTHFR
9 1.000 0.040 1 11802721 intron variant A/G snv 0.14 0.700 1.000 1 2011 2011
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.922 64 1997 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.895 19 2001 2018
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.040 1.000 4 2012 2018
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.020 1.000 2 2015 2018
dbSNP: rs121434296
rs121434296
MTHFR
3 0.882 0.040 1 11794766 missense variant G/A snv 2.0E-05 3.5E-05 0.010 1.000 1 2014 2014
dbSNP: rs145641996
rs145641996
MTHFR
2 1.000 0.040 1 11792285 missense variant T/C;G snv 1.6E-05; 1.6E-04 0.010 1.000 1 2015 2015
dbSNP: rs202095816
rs202095816
MTHFR
1 1.000 0.040 1 11801254 missense variant T/C snv 1.6E-05 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs4846049
rs4846049
MTHFR ; C1orf167
11 0.776 0.360 1 11790308 3 prime UTR variant T/A;G snv 0.010 1.000 1 2013 2013