rs121912657

Orientation

minus

Stabilized

minus

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

Make rs121912657(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

7673806

Gene

TP53

is a	snp
is	mentioned by
dbSNP	rs121912657
dbSNP (classic)	rs121912657
ClinGen	rs121912657
ebi	rs121912657
HLI	rs121912657
Exac	rs121912657
Gnomad	rs121912657
Varsome	rs121912657
LitVar	rs121912657
Map	rs121912657
PheGenI	rs121912657
Biobank	rs121912657
1000 genomes	rs121912657
hgdp	rs121912657
ensembl	rs121912657
geneview	rs121912657
scholar	rs121912657
google	rs121912657
pharmgkb	rs121912657
gwascentral	rs121912657
openSNP	rs121912657
23andMe	rs121912657
SNPshot	rs121912657
SNPdbe	rs121912657
MSV3d	rs121912657
GWAS Ctlg	rs121912657

Max Magnitude

7

OMIM	191170
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121912657(A;A) rs121912657(T;T)
Alt	rs121912657(A;A) rs121912657(T;T)
Reference	Rs121912657(G;G)
Significance	Pathogenic
Disease	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Adenocarcinoma of stomach Neoplasm of breast Squamous cell carcinoma of the head and neck Squamous cell carcinoma of the skin Transitional cell carcinoma of the bladder Colorectal Neoplasms Ovarian Serous Cystadenocarcinoma Pancreatic adenocarcinoma Renal cell carcinoma Medulloblastoma Adenocarcinoma of lung Malignant neoplasm of body of uterus Multiple myeloma Li-Fraumeni syndrome
Variation	info
Gene	TP53
CLNDBN	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Adenocarcinoma of stomach Neoplasm of breast Squamous cell carcinoma of the head and neck Squamous cell carcinoma of the skin Transitional cell carcinoma of the bladder Colorectal Neoplasms Ovarian Serous Cystadenocarcinoma Pancreatic adenocarcinoma Renal cell carcinoma Medulloblastoma Adenocarcinoma of lung Malignant neoplasm of body of uterus Multiple myeloma Li-Fraumeni syndrome
Reversed	1
HGVS	NC_000017.10:g.7577124C>A; NC_000017.10:g.7577124C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013152.22, RCV000164988.1, RCV000417682.1, RCV000420507.1, RCV000426429.1, RCV000427077.1, RCV000428361.1, RCV000431193.1, RCV000432989.1, RCV000434905.1, RCV000437100.1, RCV000437706.1, RCV000439021.1, RCV000443570.1, RCV000443589.1, RCV000165304.2, RCV000418746.1, RCV000424351.1, RCV000424542.1, RCV000425268.1, RCV000426406.1, RCV000432177.1, RCV000434295.1, RCV000434621.1, RCV000436402.1, RCV000436602.1, RCV000441086.1, RCV000443052.1, RCV000443071.1, RCV000457645.1,