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: rs1064793703
rs1064793703
CBS
3 0.925 0.160 21 43062344 missense variant GG/AA mnv 0.010 1.000 1 2019 2019
dbSNP: rs132630331
rs132630331
GK
3 1.000 X 30707584 missense variant A/G snv 0.010 1.000 1 2003 2003
dbSNP: rs398123151
rs398123151
CBS
4 0.882 0.160 21 43062344 missense variant G/A snv 2.0E-05 0.010 1.000 1 2019 2019