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: rs2736098
rs2736098
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.700 1.000 2 2014 2018
dbSNP: rs35226131
rs35226131
2 1.000 0.120 5 1295258 upstream gene variant C/T snv 2.6E-02 0.700 1.000 2 2016 2018
dbSNP: rs2736100
rs2736100
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.010 1.000 1 2019 2019