Source: BEFREE

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: rs587783460
rs587783460
CREBBP
1.000 0.120 16 3793539 stop gained G/A snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.710 1.000 1 2016 2016
dbSNP: rs112906840
rs112906840
CREBBP
1.000 0.120 16 3729114 missense variant T/A;C snv 4.9E-06; 5.1E-03
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.010 1.000 1 2005 2005
dbSNP: rs121434625
rs121434625
CREBBP
0.925 0.120 16 3793533 stop gained G/A snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs129974
rs129974
CREBBP
1.000 0.040 16 3745291 synonymous variant G/A;T snv 4.0E-06; 3.5E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2012 2012
dbSNP: rs3025684
rs3025684
CREBBP
1.000 0.120 16 3745362 splice region variant G/A snv 7.7E-02 0.15
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		0.010 1.000 1 2019 2019
dbSNP: rs3025684
rs3025684
CREBBP
1.000 0.120 16 3745362 splice region variant G/A snv 7.7E-02 0.15
CUI: C0085281
Disease: Addictive Behavior
Addictive Behavior 		0.010 1.000 1 2011 2011