Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28931588
rs28931588
CTNNB1
0.701 0.200 3 41224606 missense variant G/A;C;T snv
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		0.820 1.000 3 1999 2009
dbSNP: rs121913403
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		0.810 1.000 6 1999 2017
dbSNP: rs121913400
rs121913400
CTNNB1
0.683 0.360 3 41224610 missense variant C/A;G;T snv
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		0.800 1.000 6 1999 2017
dbSNP: rs121913413
rs121913413
CTNNB1
0.763 0.240 3 41224634 missense variant C/A;T snv
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		0.800 1.000 6 1999 2017
dbSNP: rs28931589
rs28931589
CTNNB1
0.695 0.240 3 41224613 missense variant G/A;C;T snv
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		0.800 1.000 6 1999 2017
dbSNP: rs121913396
rs121913396
CTNNB1
0.732 0.200 3 41224607 missense variant A/C;G;T snv
CUI: C0206711
Disease: Pilomatrixoma
Pilomatrixoma 		0.800 1.000 3 2013 2017