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rs1057519884

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519884(G;T)
Make rs1057519884(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position3738616
GeneCREBBP
is asnp
is mentioned by
dbSNPrs1057519884
dbSNP (old)rs1057519884
ClinGenrs1057519884
ebirs1057519884
HLIrs1057519884
Exacrs1057519884
Gnomadrs1057519884
Varsomers1057519884
Maprs1057519884
PheGenIrs1057519884
Biobankrs1057519884
1000 genomesrs1057519884
hgdprs1057519884
ensemblrs1057519884
gopubmedrs1057519884
geneviewrs1057519884
scholarrs1057519884
googlers1057519884
pharmgkbrs1057519884
gwascentralrs1057519884
openSNPrs1057519884
23andMers1057519884
23andMe allrs1057519884
SNPshotrs1057519884
SNPdbers1057519884
MSV3drs1057519884
GWAS Ctlgrs1057519884
Max Magnitude0
ClinVar
Risk rs1057519884(A;A) rs1057519884(T;T)
Alt rs1057519884(A;A) rs1057519884(T;T)
Reference Rs1057519884(G;G)
Significance Probable-Pathogenic
Disease Uterine cervical neoplasms Transitional cell carcinoma of the bladder Medulloblastoma Adenoid cystic carcinoma Squamous cell carcinoma of the head and neck Colorectal Neoplasms Adenocarcinoma of stomach Hepatocellular carcinoma Squamous cell carcinoma of lung Glioblastoma Malignant melanoma of skin
Variation info
Gene CREBBP
CLNDBN Uterine cervical neoplasms Transitional cell carcinoma of the bladder Medulloblastoma Adenoid cystic carcinoma Squamous cell carcinoma of the head and neck Colorectal Neoplasms Adenocarcinoma of stomach Hepatocellular carcinoma Squamous cell carcinoma of lung Glioblastoma Malignant melanoma of skin
Reversed 1
HGVS NC_000016.9:g.3788617C>A; NC_000016.9:g.3788617C>T
CLNSRC
CLNACC RCV000417475.1, RCV000418109.1, RCV000422899.1, RCV000423976.1, RCV000428142.1, RCV000430512.1, RCV000434630.1, RCV000436449.1, RCV000438833.1, RCV000440084.1, RCV000441248.1, RCV000420453.1, RCV000424559.1, RCV000425211.1, RCV000425657.1, RCV000432858.1, RCV000433580.1, RCV000435262.1, RCV000437565.1, RCV000441892.1, RCV000441923.1, RCV000443540.1,