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: rs370475970
rs370475970
1 16 1985996 missense variant C/T snv 3.2E-05 7.7E-05 0.700 1.000 1 2017 2017
dbSNP: rs863224028
rs863224028
1 16 1984415 frameshift variant C/- delins 0.700 1.000 1 2017 2017