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 0.870 23 1996 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 0.800 5 2003 2019
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 1.000 2 2006 2019
dbSNP: rs1255283120
rs1255283120
MTHFR
7 0.807 0.160 1 11792345 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs768248826
rs768248826
MTHFR
1 1.000 0.080 1 11801265 missense variant G/A;C snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs775254308
rs775254308
MTHFR
1 1.000 0.080 1 11803451 missense variant C/T snv 4.2E-06 0.010 1.000 1 2006 2006