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: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.030 1.000 3 2013 2017
dbSNP: rs10484879
rs10484879
5 0.827 0.160 6 52187159 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs148704956
rs148704956
19 0.716 0.360 6 52187772 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2015 2015