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: rs1126616
rs1126616
8 0.827 0.280 4 87982701 synonymous variant C/G;T snv 0.32 0.26 0.010 1.000 1 2017 2017
dbSNP: rs4754
rs4754
12 0.752 0.360 4 87981540 missense variant T/A;C snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs9138
rs9138
12 0.776 0.360 4 87983190 3 prime UTR variant A/C;T snv 0.010 1.000 1 2017 2017