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: rs12720270
rs12720270
4 0.851 0.240 19 10365084 intron variant G/A snv 0.21 0.16 0.010 1.000 1 2019 2019
dbSNP: rs12720356
rs12720356
12 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2304256
rs2304256
13 0.732 0.360 19 10364976 missense variant C/A snv 0.27 0.23 0.010 1.000 1 2019 2019
dbSNP: rs280500
rs280500
3 0.882 0.200 19 10379726 5 prime UTR variant A/G snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs34536443
rs34536443
25 0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02 0.010 1.000 1 2019 2019