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rs398124146

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398124146(C;T)
Make rs398124146(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position3738617
GeneCREBBP
is asnp
is mentioned by
dbSNPrs398124146
dbSNP (classic)rs398124146
ClinGenrs398124146
ebirs398124146
HLIrs398124146
Exacrs398124146
Gnomadrs398124146
Varsomers398124146
LitVarrs398124146
Maprs398124146
PheGenIrs398124146
Biobankrs398124146
1000 genomesrs398124146
hgdprs398124146
ensemblrs398124146
geneviewrs398124146
scholarrs398124146
googlers398124146
pharmgkbrs398124146
gwascentralrs398124146
openSNPrs398124146
23andMers398124146
23andMe allrs398124146
SNPshotrs398124146
SNPdbers398124146
MSV3drs398124146
GWAS Ctlgrs398124146
Max Magnitude0
ClinVar
Risk rs398124146(G;G) rs398124146(T;T)
Alt rs398124146(G;G) rs398124146(T;T)
Reference Rs398124146(C;C)
Significance Probable-Pathogenic
Disease not specified Medulloblastoma Uterine cervical neoplasms Colorectal Neoplasms Adenocarcinoma of stomach Glioblastoma Hepatocellular carcinoma Adenoid cystic carcinoma Transitional cell carcinoma of the bladder Squamous cell carcinoma of the head and neck Squamous cell carcinoma of lung Malignant melanoma of skin
Variation info
Gene CREBBP
CLNDBN not specified Medulloblastoma Uterine cervical neoplasms Colorectal Neoplasms Adenocarcinoma of stomach Glioblastoma Hepatocellular carcinoma Adenoid cystic carcinoma Transitional cell carcinoma of the bladder Squamous cell carcinoma of the head and neck Squamous cell carcinoma of lung Malignant melanoma of skin
Reversed 1
HGVS NC_000016.9:g.3788618G>A; NC_000016.9:g.3788618G>C
CLNSRC
CLNACC RCV000081052.4, RCV000418574.1, RCV000423556.1, RCV000425760.1, RCV000426447.1, RCV000426681.1, RCV000433226.1, RCV000434703.1, RCV000436055.1, RCV000441267.1, RCV000442404.1, RCV000443206.1, RCV000419312.1, RCV000422245.1, RCV000423470.1, RCV000428778.1, RCV000430036.1, RCV000431113.1, RCV000432952.1, RCV000438307.1, RCV000439458.1, RCV000440692.1, RCV000442935.1,