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rs397516436

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 7 Li-Fraumeni Syndrome (predicted)
Make rs397516436(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position7674894
GeneTP53
is asnp
is mentioned by
dbSNPrs397516436
dbSNP (classic)rs397516436
ClinGenrs397516436
ebirs397516436
HLIrs397516436
Exacrs397516436
Gnomadrs397516436
Varsomers397516436
LitVarrs397516436
Maprs397516436
PheGenIrs397516436
Biobankrs397516436
1000 genomesrs397516436
hgdprs397516436
ensemblrs397516436
geneviewrs397516436
scholarrs397516436
googlers397516436
pharmgkbrs397516436
gwascentralrs397516436
openSNPrs397516436
23andMers397516436
SNPshotrs397516436
SNPdbers397516436
MSV3drs397516436
GWAS Ctlgrs397516436
Max Magnitude0
ClinVar
Risk rs397516436(G;G) rs397516436(T;T)
Alt rs397516436(G;G) rs397516436(T;T)
Reference Rs397516436(C;C)
Significance Pathogenic
Disease Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 not provided Hepatocellular carcinoma Malignant neoplasm of body of uterus Glioblastoma Malignant melanoma of skin Squamous cell carcinoma of the head and neck Oesophageal carcinoma Colorectal Neoplasms Adenoid cystic carcinoma Pancreatic adenocarcinoma Renal cell carcinoma Adrenocortical carcinoma Neoplasm of brain Ovarian Serous Cystadenocarcinoma Adenocarcinoma of stomach Squamous cell carcinoma of the skin Transitional cell carcinoma of the bladder Nasopharyngeal Neoplasms Uterine Carcinosarcoma Adenocarcinoma of prostate Squamous cell carcinoma of lung Adenocarcinoma of lung Neoplasm of breast
Variation info
Gene TP53
CLNDBN Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 not provided Hepatocellular carcinoma Malignant neoplasm of body of uterus Glioblastoma Malignant melanoma of skin Squamous cell carcinoma of the head and neck Oesophageal carcinoma Colorectal Neoplasms Adenoid cystic carcinoma Pancreatic adenocarcinoma Renal cell carcinoma Adrenocortical carcinoma Neoplasm of brain Ovarian Serous Cystadenocarcinoma Adenocarcinoma of stomach Squamous cell carcinoma of the skin Transitional cell carcinoma of the bladder Nasopharyngeal Neoplasms Uterine Carcinosarcoma Adenocarcinoma of prostate Squamous cell carcinoma of lung Adenocarcinoma of lung Neoplasm of breast
Reversed 1
HGVS NC_000017.10:g.7578212G>A; NC_000017.10:g.7578212G>C
CLNSRC COSMIC
CLNACC RCV000036532.5, RCV000115730.7, RCV000144672.3, RCV000213050.2, RCV000417479.1, RCV000419627.1, RCV000420272.1, RCV000421524.1, RCV000421648.1, RCV000424254.1, RCV000425630.1, RCV000426157.1, RCV000426799.1, RCV000428146.1, RCV000428823.1, RCV000430949.1, RCV000431481.1, RCV000432206.1, RCV000432863.1, RCV000436862.1, RCV000437472.1, RCV000438186.1, RCV000438677.1, RCV000438834.1, RCV000444193.1, RCV000444980.1,