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: rs1137100
rs1137100
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.040 0.750 4 2005 2019
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.040 0.750 4 2005 2018
dbSNP: rs1045895
rs1045895
2 0.925 0.080 1 65432298 3 prime UTR variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1327118
rs1327118
1 1.000 0.080 1 65419886 upstream gene variant G/C snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs13306519
rs13306519
2 1.000 0.080 1 65572246 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1805092
rs1805092
2 0.925 0.080 1 65570758 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs1805094
rs1805094
16 0.716 0.440 1 65610269 missense variant G/C;T snv 0.16; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1805096
rs1805096
6 0.827 0.200 1 65636574 synonymous variant G/A snv 0.46 0.43 0.010 1.000 1 2009 2009
dbSNP: rs1892534
rs1892534
7 0.925 0.120 1 65640261 3 prime UTR variant C/T snv 0.44 0.010 1.000 1 2012 2012
dbSNP: rs3806318
rs3806318
2 0.925 0.160 1 65419674 upstream gene variant A/G snv 0.19 0.010 1.000 1 2018 2018
dbSNP: rs6700896
rs6700896
9 0.827 0.160 1 65624099 intron variant C/T snv 0.44 0.010 1.000 1 2012 2012