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rs121913370

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913370(A;G)
Make rs121913370(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position140753393
GeneBRAF
is asnp
is mentioned by
dbSNPrs121913370
dbSNP (classic)rs121913370
ClinGenrs121913370
ebirs121913370
HLIrs121913370
Exacrs121913370
Gnomadrs121913370
Varsomers121913370
LitVarrs121913370
Maprs121913370
PheGenIrs121913370
Biobankrs121913370
1000 genomesrs121913370
hgdprs121913370
ensemblrs121913370
geneviewrs121913370
scholarrs121913370
googlers121913370
pharmgkbrs121913370
gwascentralrs121913370
openSNPrs121913370
23andMers121913370
SNPshotrs121913370
SNPdbers121913370
MSV3drs121913370
GWAS Ctlgrs121913370
Max Magnitude0
ClinVar
Risk rs121913370(C;C) rs121913370(G;G)
Alt rs121913370(C;C) rs121913370(G;G)
Reference Rs121913370(A;A)
Significance Probable-Pathogenic
Disease Non-small cell lung cancer Colorectal Neoplasms Malignant melanoma Malignant melanoma of skin Adenocarcinoma of lung Ovarian Serous Cystadenocarcinoma Multiple myeloma Chronic myeloid leukemia Papillary renal cell carcinoma
Variation info
Gene BRAF
CLNDBN Non-small cell lung cancer Colorectal Neoplasms Malignant melanoma Malignant melanoma of skin Adenocarcinoma of lung Ovarian Serous Cystadenocarcinoma Multiple myeloma Chronic myeloid leukemia Papillary renal cell carcinoma, sporadic
Reversed 1
HGVS NC_000007.13:g.140453193T>C; NC_000007.13:g.140453193T>G
CLNSRC UniProtKB (protein)
CLNACC RCV000154399.1, RCV000419529.1, RCV000421956.1, RCV000429356.1, RCV000430462.1, RCV000432607.1, RCV000438933.1, RCV000440055.1, RCV000440277.1, RCV000419907.1, RCV000422334.1, RCV000429764.1, RCV000430791.1, RCV000440423.1, RCV000440655.1,