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 0.786 14 2004 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.070 0.857 7 2012 2018
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 2020 2020
dbSNP: rs55763075
rs55763075
MTHFR ; C1orf167
6 0.827 0.120 1 11790377 3 prime UTR variant C/T snv 2.1E-05 0.010 1.000 1 2020 2020
dbSNP: rs768873896
rs768873896
MTHFR
7 0.790 0.160 1 11794822 missense variant C/G;T snv 8.0E-06; 2.4E-05 0.010 1.000 1 2006 2006