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: rs1255388379
rs1255388379
1 20 64092838 missense variant G/A snv 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs17228602
rs17228602
2 7 100890786 3 prime UTR variant C/T snv 1.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs17228616
rs17228616
3 1.000 0.080 7 100890100 3 prime UTR variant G/T snv 9.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs3735451
rs3735451
1 7 99758352 intron variant T/C snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs4646437
rs4646437
8 0.827 0.200 7 99767460 intron variant G/A snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs4646440
rs4646440
2 7 99763247 intron variant G/A snv 5.1E-02 0.010 1.000 1 2019 2019