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 0.700 1.000 2 2016 2017
dbSNP: rs35340377
rs35340377
2 1 247874908 intron variant G/A snv 0.23 0.700 1.000 1 2018 2018