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: rs148515772
rs148515772
EMD
1 X 154380902 missense variant G/A snv 8.2E-05 8.5E-05 0.700 0
dbSNP: rs2070818
rs2070818
EMD
1 X 154380798 missense variant G/C snv 4.6E-04 2.1E-04 0.010 1.000 1 2019 2019
dbSNP: rs267606782
rs267606782
EMD
4 0.925 0.120 X 154379485 start lost A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs782222974
rs782222974
EMD
1 X 154379710 stop gained G/A;T snv 2.3E-05; 1.1E-05 0.010 1.000 1 2019 2019