Gene: EXT2 ×
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: rs864309637
rs864309637
EXT2
1 1.000 0.160 11 44171743 splice donor variant G/A snv 0.700 0
dbSNP: rs886041272
rs886041272
EXT2
1 1.000 0.160 11 44108109 frameshift variant -/TGCT delins 0.700 0