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: rs1130214
rs1130214
12 0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs2494732
rs2494732
11 0.763 0.240 14 104772855 intron variant T/C snv 0.50 0.47 0.010 1.000 1 2016 2016
dbSNP: rs2498799
rs2498799
2 0.925 0.040 14 104773557 synonymous variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs764931115
rs764931115
3 0.925 0.200 14 104780148 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018