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: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
Neoplasms 0.820 1.000 5 1999 2009
dbSNP: rs121913403
rs121913403
0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
Neoplasms 0.810 1.000 7 1999 2017
dbSNP: rs121913400
rs121913400
0.683 0.360 3 41224610 missense variant C/A;G;T snv
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
Neoplasms 0.800 1.000 6 1999 2017
dbSNP: rs121913413
rs121913413
0.763 0.240 3 41224634 missense variant C/A;T snv
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
Neoplasms 0.800 1.000 6 1999 2017
dbSNP: rs28931589
rs28931589
0.695 0.240 3 41224613 missense variant G/A;C;T snv
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
Neoplasms 0.800 1.000 6 1999 2017
dbSNP: rs121913396
rs121913396
0.732 0.200 3 41224607 missense variant A/C;G;T snv
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
Neoplasms 0.800 1.000 3 2013 2017
dbSNP: rs121913399
rs121913399
0.724 0.200 3 41224612 missense variant G/A;C snv
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs775104326
rs775104326
0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma
Neoplasms 0.700 0