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: rs587777020
rs587777020
3 0.925 0.080 19 3115009 missense variant G/A snv 0.800 1.000 2 2013 2013
dbSNP: rs587777021
rs587777021
1 1.000 19 3110190 missense variant C/T snv 0.800 1.000 2 2013 2013
dbSNP: rs587777022
rs587777022
1 1.000 19 3118950 missense variant C/G;T snv 4.0E-06 0.800 1.000 2 2013 2013
dbSNP: rs140749796
rs140749796
3 0.925 0.080 19 3121122 missense variant C/G;T snv 8.0E-06 0.800 0
dbSNP: rs587777707
rs587777707
1 1.000 19 3110191 missense variant G/A;T snv 4.0E-06 0.700 0