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rs180177038

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs180177038(A;A)
Make rs180177038(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position140778007
GeneBRAF
is asnp
is mentioned by
dbSNPrs180177038
dbSNP (old)rs180177038
ClinGenrs180177038
ebirs180177038
HLIrs180177038
Exacrs180177038
Gnomadrs180177038
Varsomers180177038
Maprs180177038
PheGenIrs180177038
Biobankrs180177038
1000 genomesrs180177038
hgdprs180177038
ensemblrs180177038
gopubmedrs180177038
geneviewrs180177038
scholarrs180177038
googlers180177038
pharmgkbrs180177038
gwascentralrs180177038
openSNPrs180177038
23andMers180177038
23andMe allrs180177038
SNP Nexus

SNPshotrs180177038
SNPdbers180177038
MSV3drs180177038
GWAS Ctlgrs180177038
Max Magnitude0
ClinVar
Risk rs180177038(A;A) rs180177038(C;C)
Alt rs180177038(A;A) rs180177038(C;C)
Reference Rs180177038(G;G)
Significance Pathogenic
Disease Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 1 Rasopathy not provided Noonan syndrome 7
Variation info
Gene BRAF
CLNDBN Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 1 Rasopathy not provided Noonan syndrome 7
Reversed 1
HGVS NC_000007.13:g.140477807C>G; NC_000007.13:g.140477807C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000037923.2, RCV000015011.31, RCV000033315.3, RCV000207513.1, RCV000292151.1,