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rs28934874

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;C) 7 Li-Fraumeni Syndrome (predicted)
(C;C) 0 common in clinvar


Make rs28934874(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position7675161
GeneTP53
is asnp
is mentioned by
dbSNPrs28934874
dbSNP (classic)rs28934874
ClinGenrs28934874
ebirs28934874
HLIrs28934874
Exacrs28934874
Gnomadrs28934874
Varsomers28934874
LitVarrs28934874
Maprs28934874
PheGenIrs28934874
Biobankrs28934874
1000 genomesrs28934874
hgdprs28934874
ensemblrs28934874
geneviewrs28934874
scholarrs28934874
googlers28934874
pharmgkbrs28934874
gwascentralrs28934874
openSNPrs28934874
23andMers28934874
SNPshotrs28934874
SNPdbers28934874
MSV3drs28934874
GWAS Ctlgrs28934874
Max Magnitude7
OMIM191170
DescBREAST CANCER
Variant0025
Relatedalso


OMIM191170
Desc
Variant0026
Relatedalso
ClinVar
Risk rs28934874(A;A) rs28934874(G;G) rs28934874(T;T)
Alt rs28934874(A;A) rs28934874(G;G) rs28934874(T;T)
Reference Rs28934874(C;C)
Significance Pathogenic
Disease Breast adenocarcinoma not provided Hereditary cancer-predisposing syndrome Malignant melanoma of skin Adenocarcinoma of stomach Oesophageal carcinoma Malignant neoplasm of body of uterus Ovarian Serous Cystadenocarcinoma Multiple myeloma Adenocarcinoma of lung Colorectal Neoplasms Uterine Carcinosarcoma Adenoid cystic carcinoma Squamous cell carcinoma of the head and neck Neoplasm of brain Squamous cell carcinoma of lung Neoplasm of breast Pancreatic adenocarcinoma Hepatocellular carcinoma Transitional cell carcinoma of the bladder Li-Fraumeni syndrome
Variation info
Gene TP53
CLNDBN Breast adenocarcinoma not provided Hereditary cancer-predisposing syndrome Malignant melanoma of skin Adenocarcinoma of stomach Oesophageal carcinoma Malignant neoplasm of body of uterus Ovarian Serous Cystadenocarcinoma Multiple myeloma Adenocarcinoma of lung Colorectal Neoplasms Uterine Carcinosarcoma Adenoid cystic carcinoma Squamous cell carcinoma of the head and neck Neoplasm of brain Squamous cell carcinoma of lung Neoplasm of breast Pancreatic adenocarcinoma Hepatocellular carcinoma Transitional cell carcinoma of the bladder Li-Fraumeni syndrome
Reversed 1
HGVS NC_000017.10:g.7578479G>A; NC_000017.10:g.7578479G>C; NC_000017.10:g.7578479G>T
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013169.6, RCV000079203.4, RCV000219702.1, RCV000420199.1, RCV000420869.1, RCV000421928.1, RCV000422996.1, RCV000424996.1, RCV000426058.1, RCV000427411.1, RCV000429847.1, RCV000431507.1, RCV000432585.1, RCV000433689.1, RCV000435681.1, RCV000438074.1, RCV000440140.1, RCV000440887.1, RCV000443020.1, RCV000443379.1, RCV000418125.1, RCV000419693.1, RCV000420838.1, RCV000420971.1, RCV000425371.1, RCV000426064.1, RCV000426471.1, RCV000428371.1, RCV000431059.1, RCV000431789.1, RCV000432886.1, RCV000436762.1, RCV000437396.1, RCV000438632.1, RCV000441351.1, RCV000443299.1, RCV000443386.1, RCV000459465.1, RCV000013168.4, RCV000130617.3, RCV000417493.1, RCV000418145.1, RCV000422094.1, RCV000423161.1, RCV000424222.1, RCV000425139.1, RCV000428384.1, RCV000428836.1, RCV000429500.1, RCV000433405.1, RCV000434485.1, RCV000435159.1, RCV000437544.1, RCV000439740.1, RCV000440812.1, RCV000442802.1, RCV000443817.1,