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: rs1555531363
rs1555531363
2 0.925 0.240 17 6620832 frameshift variant G/- delins 0.700 1.000 1 2017 2017
dbSNP: rs746068882
rs746068882
2 0.925 0.240 17 6623016 stop gained G/A;C snv 1.6E-05; 7.2E-05 0.700 1.000 1 2017 2017
dbSNP: rs762771340
rs762771340
2 0.925 0.240 17 6623043 stop gained G/A snv 2.0E-05 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs752659088
rs752659088
8 0.882 0.240 17 6624770 synonymous variant G/A snv 6.5E-05 0.700 0