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: rs1555524842
rs1555524842
3 0.882 0.120 16 74628505 missense variant A/T snv 0.800 1.000 2 2017 2017
dbSNP: rs1205970095
rs1205970095
1 1.000 16 74661244 frameshift variant -/GG delins 4.0E-06 0.700 0