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: rs6265
rs6265
171 0.463 0.679 11 27658369 missense variant C/T snp 0.19 0.15 0.030 1.000 3 2013 2014
dbSNP: rs759834365
rs759834365
157 0.471 0.679 11 27658456 missense variant C/T snp 1.2E-05 0.030 1.000 3 2013 2014
dbSNP: rs4680
rs4680
155 0.484 0.821 22 19963748 missense variant G/A snp 0.46 0.45 0.020 1.000 2 2013 2015
dbSNP: rs5443
rs5443
65 0.570 0.571 12 6845711 synonymous variant C/T snp 0.36 0.43 0.010 1.000 1 2017 2017
dbSNP: rs5848
rs5848
13 0.724 0.107 17 44352876 3 prime UTR variant C/T snp 0.42 0.010 < 0.001 1 2015 2015
dbSNP: rs6280
rs6280
31 0.652 0.357 3 114171968 missense variant C/T snp 0.63 0.56 0.010 1.000 1 2013 2013
dbSNP: rs6484218
rs6484218
12 0.801 0.036 11 10369034 intron variant G/A snp 0.21 0.010 1.000 1 2010 2010
dbSNP: rs749437638
rs749437638
11 0.769 0.179 22 19968597 C/T snp 2.4E-05 3.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs956572
rs956572
10 0.744 0.143 18 63153338 intron variant A/G snp 0.65 0.010 1.000 1 2011 2011