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rs1057519889

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519889(A;A)
Make rs1057519889(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position41169525
GeneEP300
is asnp
is mentioned by
dbSNPrs1057519889
dbSNP (old)rs1057519889
ClinGenrs1057519889
ebirs1057519889
HLIrs1057519889
Exacrs1057519889
Gnomadrs1057519889
Varsomers1057519889
Maprs1057519889
PheGenIrs1057519889
Biobankrs1057519889
1000 genomesrs1057519889
hgdprs1057519889
ensemblrs1057519889
gopubmedrs1057519889
geneviewrs1057519889
scholarrs1057519889
googlers1057519889
pharmgkbrs1057519889
gwascentralrs1057519889
openSNPrs1057519889
23andMers1057519889
23andMe allrs1057519889
SNPshotrs1057519889
SNPdbers1057519889
MSV3drs1057519889
GWAS Ctlgrs1057519889
Max Magnitude0
ClinVar
Risk rs1057519889(A;A) rs1057519889(T;T)
Alt rs1057519889(A;A) rs1057519889(T;T)
Reference Rs1057519889(G;G)
Significance Probable-Pathogenic
Disease Squamous cell carcinoma of the head and neck Transitional cell carcinoma of the bladder Squamous cell carcinoma of lung Medulloblastoma Uterine cervical neoplasms Oesophageal carcinoma
Variation info
Gene EP300
CLNDBN Squamous cell carcinoma of the head and neck Transitional cell carcinoma of the bladder Squamous cell carcinoma of lung Medulloblastoma Uterine cervical neoplasms Oesophageal carcinoma
Reversed 0
HGVS NC_000022.10:g.41565529G>A; NC_000022.10:g.41565529G>T
CLNSRC
CLNACC RCV000423637.1, RCV000424698.1, RCV000432135.1, RCV000433004.1, RCV000441276.1, RCV000442744.1, RCV000419852.1, RCV000425557.1, RCV000426641.1, RCV000435813.1, RCV000436887.1, RCV000443543.1,