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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.903 62 2002 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.813 32 2004 2019
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.100 1.000 16 2009 2020
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.080 0.875 8 2009 2018
dbSNP: rs200890679
rs200890679
MTHFR
7 0.790 0.240 1 11795191 missense variant C/A;G snv 1.8E-04 2.0E-04 0.030 0.667 3 2007 2017
dbSNP: rs12121543
rs12121543
MTHFR
4 0.851 0.240 1 11794614 intron variant C/A snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs13306553
rs13306553
MTHFR
3 0.882 0.160 1 11800060 non coding transcript exon variant A/G snv 9.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs1537514
rs1537514
MTHFR ; C1orf167
4 0.882 0.120 1 11788011 missense variant G/C snv 0.10 0.10 0.010 1.000 1 2014 2014
dbSNP: rs4846048
rs4846048
MTHFR ; C1orf167
10 0.752 0.280 1 11786195 3 prime UTR variant G/A snv 0.67 0.010 1.000 1 2015 2015
dbSNP: rs9651118
rs9651118
MTHFR
20 0.683 0.480 1 11802157 intron variant T/C snv 0.18 0.010 1.000 1 2015 2015