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: rs397518475
rs397518475
1 1.000 6 131851241 missense variant G/A snv 0.800 1.000 3 2013 2018
dbSNP: rs397518476
rs397518476
1 1.000 6 131851202 missense variant G/C snv 0.800 1.000 3 2013 2018
dbSNP: rs397518477
rs397518477
1 1.000 6 131851157 missense variant G/C snv 0.800 1.000 3 2013 2018
dbSNP: rs956488367
rs956488367
1 1.000 6 131850037 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2018 2018