Source: CURATED ×
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: rs1563659474
rs1563659474
EXT1
1 1.000 0.120 8 118110504 frameshift variant GA/- delins 0.700 1.000 1 2008 2008