Have questions? Visit https://www.reddit.com/r/SNPedia

rs121913338

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913338(A;G)
Make rs121913338(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position140753354
GeneBRAF
is asnp
is mentioned by
dbSNPrs121913338
dbSNP (classic)rs121913338
ClinGenrs121913338
ebirs121913338
HLIrs121913338
Exacrs121913338
Gnomadrs121913338
Varsomers121913338
LitVarrs121913338
Maprs121913338
PheGenIrs121913338
Biobankrs121913338
1000 genomesrs121913338
hgdprs121913338
ensemblrs121913338
geneviewrs121913338
scholarrs121913338
googlers121913338
pharmgkbrs121913338
gwascentralrs121913338
openSNPrs121913338
23andMers121913338
SNPshotrs121913338
SNPdbers121913338
MSV3drs121913338
GWAS Ctlgrs121913338
Max Magnitude0
OMIM164757
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121913338(C;C) rs121913338(G;G) rs121913338(T;T)
Alt rs121913338(C;C) rs121913338(G;G) rs121913338(T;T)
Reference Rs121913338(A;A)
Significance Pathogenic
Disease Colorectal Neoplasms Malignant melanoma Malignant lymphoma Non-small cell lung cancer Chronic lymphocytic leukemia Malignant melanoma of skin Adenocarcinoma of lung Adrenocortical carcinoma Squamous cell carcinoma of the head and neck Transitional cell carcinoma of the bladder Multiple myeloma Neoplasm of brain
Variation info
Gene BRAF
CLNDBN Colorectal Neoplasms Malignant melanoma Malignant lymphoma, non-Hodgkin Non-small cell lung cancer Chronic lymphocytic leukemia Malignant melanoma of skin Adenocarcinoma of lung Adrenocortical carcinoma Squamous cell carcinoma of the head and neck Transitional cell carcinoma of the bladder Multiple myeloma Neoplasm of brain
Reversed 1
HGVS NC_000007.13:g.140453154T>A; NC_000007.13:g.140453154T>C; NC_000007.13:g.140453154T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000421094.1, RCV000434803.1, RCV000015006.9, RCV000037932.2, RCV000418680.1, RCV000423919.1, RCV000426107.1, RCV000426339.1, RCV000433779.1, RCV000435875.1, RCV000437006.1, RCV000442759.1, RCV000443065.1, RCV000443882.1, RCV000420477.1,