CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28931588
rs28931588
0.701 0.200 3 41224606 missense variant G/A;C;T snv
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
Neoplasms 0.700 0
dbSNP: rs28931589
rs28931589
0.695 0.240 3 41224613 missense variant G/A;C;T snv
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
Neoplasms 0.700 0
dbSNP: rs121913412
rs121913412
0.724 0.280 3 41224633 missense variant A/C;G;T snv
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
Neoplasms 0.700 0
dbSNP: rs121913400
rs121913400
0.683 0.360 3 41224610 missense variant C/A;G;T snv
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs121913409
rs121913409
0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
Neoplasms 0.010 1.000 1 2019 2019