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 14 1999 2009
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs201891426
rs201891426
AAAS
1 1.000 0.080 12 53314310 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2000 2000