rs1057518844, CREBBP

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Glaucoma
CUI: C0017601
Disease: Glaucoma
198 1.000 0.040 16 3757288 missense variant C/T snv 0.700 0
Thumb deformity
CUI: C0575897
Disease: Thumb deformity
7 1.000 0.040 16 3757288 missense variant C/T snv 0.700 0