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: rs1095
rs1095
2 0.925 0.080 4 4863211 3 prime UTR variant C/T snv 1.5E-02 0.010 1.000 1 2011 2011
dbSNP: rs12532
rs12532
10 0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36 0.010 < 0.001 1 2020 2020
dbSNP: rs8670
rs8670
4 0.925 0.080 4 4863149 3 prime UTR variant C/T snv 0.22 0.23 0.010 1.000 1 2019 2019
dbSNP: rs994158401
rs994158401
1 1.000 4 4860050 missense variant A/G snv 1.4E-03 1.7E-04 0.010 1.000 1 2003 2003