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: rs1037189404
rs1037189404
8 0.776 0.280 1 155187519 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2012 2012
dbSNP: rs766333007
rs766333007
8 0.776 0.280 1 155192274 missense variant C/T snv 7.0E-06 0.010 1.000 1 2007 2007