Source: ALL
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: rs4680
rs4680
155 0.484 0.821 22 19963748 missense variant G/A snp 0.46 0.45 0.020 1.000 2 2011 2012
dbSNP: rs10904440
rs10904440
1 1.000 0.036 10 5207807 intron variant G/A snp 0.80 0.010 1.000 1 2011 2011
dbSNP: rs165599
rs165599
18 0.715 0.250 22 19969258 3 prime UTR variant G/A snp 0.57 0.010 1.000 1 2012 2012
dbSNP: rs3829125
rs3829125
1 1.000 0.036 10 5205821 missense variant C/G snp 0.14 0.11 0.010 1.000 1 2011 2011
dbSNP: rs6265
rs6265
171 0.463 0.679 11 27658369 missense variant C/T snp 0.19 0.15 0.010 1.000 1 2013 2013
dbSNP: rs759834365
rs759834365
157 0.471 0.679 11 27658456 missense variant C/T snp 1.2E-05 0.010 1.000 1 2013 2013