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rs121913369

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913369(C;G)
Make rs121913369(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position140753346
GeneBRAF
is asnp
is mentioned by
dbSNPrs121913369
dbSNP (classic)rs121913369
ClinGenrs121913369
ebirs121913369
HLIrs121913369
Exacrs121913369
Gnomadrs121913369
Varsomers121913369
LitVarrs121913369
Maprs121913369
PheGenIrs121913369
Biobankrs121913369
1000 genomesrs121913369
hgdprs121913369
ensemblrs121913369
geneviewrs121913369
scholarrs121913369
googlers121913369
pharmgkbrs121913369
gwascentralrs121913369
openSNPrs121913369
23andMers121913369
SNPshotrs121913369
SNPdbers121913369
MSV3drs121913369
GWAS Ctlgrs121913369
Max Magnitude0
OMIM164757
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121913369(G;G) rs121913369(T;T)
Alt rs121913369(G;G) rs121913369(T;T)
Reference Rs121913369(C;C)
Significance Pathogenic
Disease Non-small cell lung cancer Noonan syndrome 7 Rasopathy Noonan syndrome 1 Lung cancer Malignant melanoma Neoplasm
Variation info
Gene BRAF
CLNDBN Non-small cell lung cancer Noonan syndrome 7 Rasopathy Noonan syndrome 1 Lung cancer Malignant melanoma Neoplasm
Reversed 1
HGVS NC_000007.13:g.140453146G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015003.7, RCV000030948.27, RCV000033333.4, RCV000208539.1, RCV000419516.1, RCV000426915.1, RCV000437189.1,