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: rs4980389
rs4980389
5 11 1871355 5 prime UTR variant G/A snv 0.35 0.700 1.000 3 2018 2018
dbSNP: rs112640876
rs112640876
3 11 1873813 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs569550
rs569550
6 0.925 0.080 11 1865838 intron variant T/G snv 0.35 0.700 1.000 1 2018 2018
dbSNP: rs661348
rs661348
5 11 1884062 intron variant T/C snv 0.43 0.37 0.700 1.000 1 2018 2018