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: rs1169288
rs1169288
21 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 0.800 1.000 1 2012 2012
dbSNP: rs7310409
rs7310409
7 0.925 0.160 12 120987058 intron variant A/C;G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs2393791
rs2393791
8 0.925 0.160 12 120986153 intron variant C/T snv 0.62 0.700 1.000 1 2011 2011
dbSNP: rs7979473
rs7979473
2 12 120982457 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs7979478
rs7979478
2 12 120982460 intron variant A/C;G;T snv 0.700 1.000 1 2019 2019