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rs148924904

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 7 Li-Fraumeni Syndrome (predicted)
(T;T) 0 common in clinvar


Make rs148924904(C;C)
ReferenceGRCh38 38.1/142
Chromosome17
Position7675124
GeneTP53
is asnp
is mentioned by
dbSNPrs148924904
dbSNP (classic)rs148924904
ClinGenrs148924904
ebirs148924904
HLIrs148924904
Exacrs148924904
Gnomadrs148924904
Varsomers148924904
LitVarrs148924904
Maprs148924904
PheGenIrs148924904
Biobankrs148924904
1000 genomesrs148924904
hgdprs148924904
ensemblrs148924904
geneviewrs148924904
scholarrs148924904
googlers148924904
pharmgkbrs148924904
gwascentralrs148924904
openSNPrs148924904
23andMers148924904
SNPshotrs148924904
SNPdbers148924904
MSV3drs148924904
GWAS Ctlgrs148924904
Max Magnitude7
ClinVar
Risk rs148924904(C;C)
Alt rs148924904(C;C)
Reference Rs148924904(T;T)
Significance Pathogenic
Disease not provided Colorectal Neoplasms Hepatocellular carcinoma Squamous cell carcinoma of lung Small cell lung cancer Uterine Carcinosarcoma Pancreatic adenocarcinoma Neoplasm of breast Malignant melanoma of skin Adenocarcinoma of lung Oesophageal carcinoma Brainstem glioma Ovarian Serous Cystadenocarcinoma Neoplasm of brain Squamous cell carcinoma of the head and neck Hereditary cancer-predisposing syndrome
Variation info
Gene TP53
CLNDBN not provided Colorectal Neoplasms Hepatocellular carcinoma Squamous cell carcinoma of lung Small cell lung cancer Uterine Carcinosarcoma Pancreatic adenocarcinoma Neoplasm of breast Malignant melanoma of skin Adenocarcinoma of lung Oesophageal carcinoma Brainstem glioma Ovarian Serous Cystadenocarcinoma Neoplasm of brain Squamous cell carcinoma of the head and neck Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000017.10:g.7578442T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000115725.3, RCV000419252.1, RCV000419946.1, RCV000423543.1, RCV000424864.1, RCV000427698.1, RCV000429510.1, RCV000430191.1, RCV000434251.1, RCV000434917.1, RCV000435593.1, RCV000436926.1, RCV000442798.1, RCV000443742.1, RCV000443833.1, RCV000492788.1,