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: rs121913403
rs121913403
0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs121913399
rs121913399
0.724 0.200 3 41224612 missense variant G/A;C snv
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
Neoplasms 0.710 1.000 2 2009 2014
dbSNP: rs28931588
rs28931588
0.701 0.200 3 41224606 missense variant G/A;C;T snv
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
Neoplasms 0.710 1.000 2 2009 2014
dbSNP: rs28931589
rs28931589
0.695 0.240 3 41224613 missense variant G/A;C;T snv
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
Neoplasms 0.710 1.000 2 2009 2014