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 1.000 11 2003 2015
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.090 0.889 9 2004 2014
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2017 2017
dbSNP: rs3753584
rs3753584
CLCN6 ; MTHFR
10 0.827 0.080 1 11804529 5 prime UTR variant T/C snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs9651118
rs9651118
MTHFR
20 0.683 0.480 1 11802157 intron variant T/C snv 0.18 0.010 1.000 1 2017 2017