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: rs2642442
rs2642442
3 1 220800221 intron variant C/T snv 0.73 0.800 1.000 4 2010 2019
dbSNP: rs2642438
rs2642438
6 1 220796686 missense variant A/G snv 0.75 0.78 0.700 1.000 4 2017 2019
dbSNP: rs1874124
rs1874124
2 1 220801995 intron variant C/T snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs2807834
rs2807834
2 1 220797251 intron variant T/C;G snv 0.700 1.000 1 2018 2018