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rs121913348

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913348(A;A)
Make rs121913348(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position140781617
GeneBRAF
is asnp
is mentioned by
dbSNPrs121913348
dbSNP (classic)rs121913348
ClinGenrs121913348
ebirs121913348
HLIrs121913348
Exacrs121913348
Gnomadrs121913348
Varsomers121913348
LitVarrs121913348
Maprs121913348
PheGenIrs121913348
Biobankrs121913348
1000 genomesrs121913348
hgdprs121913348
ensemblrs121913348
geneviewrs121913348
scholarrs121913348
googlers121913348
pharmgkbrs121913348
gwascentralrs121913348
openSNPrs121913348
23andMers121913348
SNPshotrs121913348
SNPdbers121913348
MSV3drs121913348
GWAS Ctlgrs121913348
Max Magnitude0
OMIM164757
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121913348(A;A) rs121913348(C;C) rs121913348(T;T)
Alt rs121913348(A;A) rs121913348(C;C) rs121913348(T;T)
Reference Rs121913348(G;G)
Significance Other
Disease Rasopathy Non-small cell lung cancer Neoplasm of breast Neoplasm Carcinoma of colon not provided Chronic lymphocytic leukemia
Variation info
Gene BRAF
CLNDBN Rasopathy Non-small cell lung cancer Neoplasm of breast Neoplasm Carcinoma of colon not provided Chronic lymphocytic leukemia
Reversed 1
HGVS NC_000007.13:g.140481417C>A; NC_000007.13:g.140481417C>T
CLNSRC UniProtKB (protein) OMIM Allelic Variant
CLNACC RCV000033302.4, RCV000037914.2, RCV000426199.1, RCV000442182.1, RCV000014997.6, RCV000033304.3, RCV000207512.1, RCV000418719.1, RCV000436895.1,