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: rs28364997
rs28364997
9 0.807 0.120 5 1403013 missense variant G/A snv 5.3E-04 5.8E-04 0.010 1.000 1 2019 2019
dbSNP: rs556450190
rs556450190
3 1.000 0.080 15 50997380 missense variant G/A snv 2.5E-05 1.7E-04 0.010 1.000 1 2015 2015
dbSNP: rs6277
rs6277
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.010 1.000 1 2019 2019
dbSNP: rs760021635
rs760021635
3 1.000 0.080 15 50958492 missense variant G/A snv 8.2E-06 7.0E-06 0.010 1.000 1 2015 2015