rs199821421, CREBBP

N. diseases: 6
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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.827 0.160 16 3728723 stop gained G/A;T snv 5.2E-05 0.700 1.000 18 1963 2017
Abnormal location of the eyebrow
CUI: C4477036
Disease: Abnormal location of the eyebrow
1 0.827 0.160 16 3728723 stop gained G/A;T snv 5.2E-05 0.700 0
Attention deficit hyperactivity disorder
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
420 0.827 0.160 16 3728723 stop gained G/A;T snv 5.2E-05 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.160 16 3728723 stop gained G/A;T snv 5.2E-05 0.700 0
RUBINSTEIN-TAYBI SYNDROME 1
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
39 0.827 0.160 16 3728723 stop gained G/A;T snv 5.2E-05 0.700 0
Syndactyly of the toes
CUI: C0265660
Disease: Syndactyly of the toes
11 0.827 0.160 16 3728723 stop gained G/A;T snv 5.2E-05 0.700 0