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: rs587776862
rs587776862
1 1.000 0.040 1 239908624 frameshift variant GCCTGAGGAGGA/T delins 0.700 0
dbSNP: rs387906592
rs387906592
14 0.752 0.280 10 88941309 missense variant C/T snv 0.010 1.000 1 2012 2012