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: rs528557
rs528557
6 0.827 0.120 20 3671095 synonymous variant C/A;G snv 4.7E-06; 0.29 0.020 0.500 2 2015 2017
dbSNP: rs2280089
rs2280089
2 0.925 0.080 20 3669480 non coding transcript exon variant G/A snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs2280091
rs2280091
3 0.882 0.080 20 3669587 missense variant A/G snv 0.13 0.14 0.010 1.000 1 2017 2017
dbSNP: rs2787094
rs2787094
4 0.851 0.160 20 3668514 3 prime UTR variant C/G snv 0.71 0.010 1.000 1 2017 2017
dbSNP: rs2853209
rs2853209
5 0.827 0.200 20 3670825 intron variant T/A snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs44707
rs44707
2 0.925 0.080 20 3670579 non coding transcript exon variant G/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs511898
rs511898
2 0.925 0.080 20 3674438 3 prime UTR variant C/T snv 0.47 0.010 1.000 1 2015 2015
dbSNP: rs678881
rs678881
2 0.925 0.080 20 3669156 intron variant G/A;C snv 0.010 1.000 1 2019 2019