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: rs1555006433
rs1555006433
EXT2
1 1.000 0.160 11 44130097 stop gained C/T snv 0.700 1.000 1 2011 2011
dbSNP: rs1565196333
rs1565196333
EXT2
1 1.000 0.160 11 44107950 frameshift variant C/- del 0.700 1.000 1 2014 2014