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: rs1498126
rs1498126
1 4 105271300 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs56185013
rs56185013
1 4 105238976 3 prime UTR variant G/A snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs974801
rs974801
1 4 105149907 intron variant A/G snv 0.36 0.700 1.000 1 2019 2019