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: rs1254158201
rs1254158201
1 1.000 0.120 5 179836453 frameshift variant -/T delins 4.0E-06 0.010 1.000 1 2016 2016