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: rs1057518980
rs1057518980
3 0.925 0.120 10 92613446 frameshift variant ATAAATCAAT/- delins 0.700 0