Source: ALL
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: rs1554601504
rs1554601504
EXT1
1 1.000 0.120 8 118110384 frameshift variant ATGCTGGCTTTGG/- delins 0.700 1.000 2 2002 2009