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: rs981951447
rs981951447
2 0.925 0.120 5 87268726 missense variant C/T snv 0.010 < 0.001 1 2017 2017