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: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2008 2008
dbSNP: rs746782366
rs746782366
CBS
2 0.925 0.120 21 43072117 missense variant C/G;T snv 8.1E-06; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs756065494
rs756065494
MTR
2 0.925 0.120 1 236835605 missense variant A/G snv 2.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs766958673
rs766958673
CBS
4 0.851 0.120 21 43066293 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2008 2008