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: rs1327474
rs1327474
2 0.925 0.080 6 137219938 upstream gene variant C/T snv 0.67 0.010 1.000 1 2017 2017
dbSNP: rs1327475
rs1327475
2 0.925 0.080 6 137215318 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2017 2017
dbSNP: rs7749390
rs7749390
3 0.882 0.120 6 137219233 5 prime UTR variant A/G;T snv 0.43; 4.4E-06 0.010 1.000 1 2017 2017
dbSNP: rs9376267
rs9376267
2 0.925 0.080 6 137209894 5 prime UTR variant C/T snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs9376268
rs9376268
2 0.925 0.080 6 137211614 intron variant G/A snv 0.20 0.010 1.000 1 2017 2017