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: rs11127
rs11127
3 0.925 0.160 2 85697606 missense variant C/T snv 0.39 0.31 0.010 < 0.001 1 2015 2015
dbSNP: rs1866139
rs1866139
2 1.000 0.080 2 85694266 intron variant G/C snv 0.51 0.010 < 0.001 1 2015 2015