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: rs11296991
rs11296991
2 5 54012825 intron variant TT/-;T;TTT delins 0.29 0.700 1.000 1 2018 2018
dbSNP: rs12654393
rs12654393
1 5 54006790 intron variant G/T snv 0.27 0.700 1.000 1 2018 2018
dbSNP: rs16881971
rs16881971
1 5 54005377 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1694068
rs1694068
4 5 53987800 intron variant T/A snv 0.62 0.700 1.000 1 2018 2018
dbSNP: rs6450176
rs6450176
4 5 54002195 intron variant G/A snv 0.27 0.700 1.000 1 2018 2018