Gene: HUWE1 ×
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: rs1556912828
rs1556912828
HUWE1
6 0.925 0.280 X 53536209 missense variant G/C snv 0.700 0
dbSNP: rs1557024919
rs1557024919
HUWE1
7 0.925 0.240 X 53634235 splice donor variant C/G snv 0.700 0
dbSNP: rs1557036757
rs1557036757
HUWE1
7 0.925 0.240 X 53647375 missense variant G/A snv 0.700 0