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: rs1555910048
rs1555910048
1 1.000 0.200 22 50720739 frameshift variant -/CCGTGGGCAGCCCCGG delins 0.700 0