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rs121913343

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 7 Li-Fraumeni Syndrome (predicted)
Make rs121913343(C;T)
Make rs121913343(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position7673803
GeneTP53
is asnp
is mentioned by
dbSNPrs121913343
dbSNP (classic)rs121913343
ClinGenrs121913343
ebirs121913343
HLIrs121913343
Exacrs121913343
Gnomadrs121913343
Varsomers121913343
LitVarrs121913343
Maprs121913343
PheGenIrs121913343
Biobankrs121913343
1000 genomesrs121913343
hgdprs121913343
ensemblrs121913343
geneviewrs121913343
scholarrs121913343
googlers121913343
pharmgkbrs121913343
gwascentralrs121913343
openSNPrs121913343
23andMers121913343
SNPshotrs121913343
SNPdbers121913343
MSV3drs121913343
GWAS Ctlgrs121913343
Max Magnitude7
ClinVar
Risk rs121913343(A;A) rs121913343(T;T)
Alt rs121913343(A;A) rs121913343(T;T)
Reference Rs121913343(C;C)
Significance Other
Disease Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Malignant tumor of prostate Li-Fraumeni syndrome not provided Neoplasm of breast Neoplasm Hepatocellular carcinoma Acute myeloid leukemia Adenocarcinoma of lung Glioblastoma Ovarian Serous Cystadenocarcinoma Chronic lymphocytic leukemia Malignant neoplasm of body of uterus Neoplasm of brain Medulloblastoma Malignant melanoma of skin Brainstem glioma Squamous cell carcinoma of the head and neck Small cell lung cancer Oesophageal carcinoma Multiple myeloma Adrenocortical carcinoma Adenocarcinoma of prostate Pancreatic adenocarcinoma Squamous cell carcinoma of lung Colorectal Neoplasms Adenocarcinoma of stomach Uterine Carcinosarcoma Transitional cell carcinoma of the bladder
Variation info
Gene TP53
CLNDBN Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Malignant tumor of prostate Li-Fraumeni syndrome not provided Neoplasm of breast Neoplasm Hepatocellular carcinoma Acute myeloid leukemia Adenocarcinoma of lung Glioblastoma Ovarian Serous Cystadenocarcinoma Chronic lymphocytic leukemia Malignant neoplasm of body of uterus Neoplasm of brain Medulloblastoma Malignant melanoma of skin Brainstem glioma Squamous cell carcinoma of the head and neck Small cell lung cancer Oesophageal carcinoma Multiple myeloma Adrenocortical carcinoma Adenocarcinoma of prostate Pancreatic adenocarcinoma Squamous cell carcinoma of lung Colorectal Neoplasms Adenocarcinoma of stomach Uterine Carcinosarcoma Transitional cell carcinoma of the bladder
Reversed 1
HGVS NC_000017.10:g.7577121G>A; NC_000017.10:g.7577121G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000131966.5, RCV000144665.4, RCV000149051.1, RCV000205625.1, RCV000254692.1, RCV000421090.1, RCV000431786.1, RCV000432002.1, RCV000442470.1, RCV000418085.1, RCV000420280.1, RCV000420482.1, RCV000422550.1, RCV000422795.1, RCV000424918.1, RCV000425669.1, RCV000427515.1, RCV000427884.1, RCV000430119.1, RCV000431180.1, RCV000431455.1, RCV000432372.1, RCV000433489.1, RCV000435074.1, RCV000435480.1, RCV000436543.1, RCV000438218.1, RCV000439774.1, RCV000440794.1, RCV000440997.1, RCV000444595.1, RCV000445287.1, RCV000445314.1,