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: rs4449583
rs4449583
5 5 1284020 intron variant C/T snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs2736100
rs2736100
12 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.700 1.000 2 2016 2017
dbSNP: rs7705526
rs7705526
15 0.776 0.240 5 1285859 intron variant C/A;T snv 0.700 1.000 1 2019 2019