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: rs2273535
rs2273535
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs8173
rs8173
9 0.763 0.240 20 56369735 3 prime UTR variant C/G;T snv 0.010 1.000 1 2018 2018