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 0.050 0.600 5 1999 2013
dbSNP: rs201765376
rs201765376
MTR
12 0.732 0.360 1 236838504 synonymous variant C/T snv 1.6E-05 1.4E-05 0.020 1.000 2 2008 2013
dbSNP: rs4659744
rs4659744
MTR
2 0.925 0.080 1 236896158 intron variant G/C snv 0.34 0.010 1.000 1 2010 2010