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: rs121909343
rs121909343
2 1.000 0.080 2 74368870 missense variant A/G snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs121909345
rs121909345
4 0.882 0.120 2 74363337 missense variant C/T snv 2.8E-05 2.1E-05 0.700 0
dbSNP: rs58599399
rs58599399
2 1.000 0.080 12 49295621 missense variant G/A;T snv 3.2E-03 0.700 0
dbSNP: rs606231212
rs606231212
1 22 29489621 inframe deletion CAGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGG/- delins 0.700 0
dbSNP: rs72466496
rs72466496
2 1.000 0.080 2 74361590 missense variant G/A snv 2.9E-03 2.8E-03 0.700 0