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: rs864309690
rs864309690
2 0.925 0.200 10 17229436 frameshift variant C/- delins 0.700 1.000 1 2016 2016