CREBBP, CREB binding protein, 1387

N. diseases: 438; N. variants: 123
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: rs1057519884
rs1057519884
0.752 0.240 16 3738616 missense variant C/A;T snv
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma
Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs398124146
rs398124146
0.742 0.360 16 3738617 missense variant G/A;C snv
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma
Neoplasms 0.700 1.000 1 2016 2016