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: rs1553353206
rs1553353206
3 1.000 1 224398525 frameshift variant CATTTAACAA/- delins 0.700 1.000 1 2017 2017