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rs113488022

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 3.5 related to skin moles and melanoma
(T;T) 0 normal
Make rs113488022(C;C)
Make rs113488022(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position140753336
GeneBRAF
is asnp
is mentioned by
dbSNPrs113488022
ebirs113488022
HLIrs113488022
Exacrs113488022
Varsomers113488022
Maprs113488022
PheGenIrs113488022
hapmaprs113488022
1000 genomesrs113488022
hgdprs113488022
ensemblrs113488022
gopubmedrs113488022
geneviewrs113488022
scholarrs113488022
googlers113488022
pharmgkbrs113488022
gwascentralrs113488022
openSNPrs113488022
23andMers113488022
23andMe allrs113488022
SNP Nexus

SNPshotrs113488022
SNPdbers113488022
MSV3drs113488022
GWAS Ctlgrs113488022
Max Magnitude3.5
OMIM164757
Desc
Variant0001
Relatedalso

Also known as val600-to-glu (V600E) . Drug responses are discussed at http://blogs.nature.com/freeassociation/2011/08/melanoma_sequencing_identifies_1.html

ClinVar
Risk rs113488022(A,C,G;A,C,G)
Alt rs113488022(A,C,G;A,C,G)
Reference rs113488022(T;T)
Significance Pathogenic
Disease Rasopathy Cardiofaciocutaneous syndrome Carcinoma of colon Papillary thyroid carcinoma Astrocytoma Germ cell tumor Non-small cell lung cancer Malignant melanoma not provided
Variation info
Gene BRAF
CLNDBN Rasopathy Cardiofaciocutaneous syndrome Carcinoma of colon Papillary thyroid carcinoma Astrocytoma, low-grade, somatic Germ cell tumor, nonseminomatous Non-small cell lung cancer Malignant melanoma not provided
Reversed 1
HGVS NC_000007.13:g.140453136A>C; NC_000007.13:g.140453136A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033335.2, RCV000208774.1, RCV000014992.13, RCV000014993.13, RCV000014994.13, RCV000022677.13, RCV000037936.2, RCV000067669.12, RCV000080903.4, RCV000208763.1,


[PMID 21499247OA-icon.png] Exome sequencing identifies GRIN2A as frequently mutated in melanoma.