Gene: EXT1 ×
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: rs587776540
rs587776540
EXT1
1 1.000 0.040 8 118110512 frameshift variant CACTTTGG/- delins 0.700 0
dbSNP: rs773198507
rs773198507
EXT1
1 1.000 0.040 8 118110148 missense variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005