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: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2020 2020
dbSNP: rs4912905
rs4912905
3 0.925 0.080 5 143350811 intron variant G/C snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs4986593
rs4986593
1 5 143314281 intron variant A/G snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs9324924
rs9324924
1 5 143412919 intron variant G/T snv 0.46 0.010 1.000 1 2015 2015