Source: CLINVAR

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: rs398124146
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 1.000 1 2016 2016
dbSNP: rs398124146
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs398124146
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs398124146
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs398124146
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs398124146
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs398124146
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs398124146
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs398124146
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs398124146
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.700 1.000 1 2016 2016
dbSNP: rs398124146
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs398124146
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.700 0