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: rs13359291
rs13359291
2 5 123140763 intron variant G/A;C snv 0.700 1.000 2 2015 2017
dbSNP: rs1008058
rs1008058
1 5 123099932 missense variant G/A;T snv 0.17 0.12 0.700 1.000 1 2016 2016
dbSNP: rs1422279
rs1422279
1 5 123134514 intron variant C/T snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs555625
rs555625
1 5 123117450 intron variant C/T snv 0.90 0.700 1.000 1 2019 2019