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: rs3811444
rs3811444
12 1 247876149 missense variant C/T snv 0.31 0.26 0.800 1.000 1 2011 2011
dbSNP: rs4925747
rs4925747
1 1 247873252 intron variant G/A snv 0.43 0.700 1.000 1 2018 2018
dbSNP: rs4925750
rs4925750
1 1 247875023 intron variant T/C snv 0.33 0.700 1.000 1 2016 2016