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rs180177035

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs180177035(A;G)
Make rs180177035(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position140801502
GeneBRAF
is asnp
is mentioned by
dbSNPrs180177035
dbSNP (old)rs180177035
ClinGenrs180177035
ebirs180177035
HLIrs180177035
Exacrs180177035
Gnomadrs180177035
Varsomers180177035
Maprs180177035
PheGenIrs180177035
Biobankrs180177035
1000 genomesrs180177035
hgdprs180177035
ensemblrs180177035
gopubmedrs180177035
geneviewrs180177035
scholarrs180177035
googlers180177035
pharmgkbrs180177035
gwascentralrs180177035
openSNPrs180177035
23andMers180177035
23andMe allrs180177035
SNP Nexus

SNPshotrs180177035
SNPdbers180177035
MSV3drs180177035
GWAS Ctlgrs180177035
Max Magnitude0
ClinVar
Risk rs180177035(G;G)
Alt rs180177035(G;G)
Reference Rs180177035(A;A)
Significance Pathogenic
Disease Cardiofaciocutaneous syndrome 1 Rasopathy not provided Cardio-facio-cutaneous syndrome
Variation info
Gene BRAF
CLNDBN Cardiofaciocutaneous syndrome 1 Rasopathy not provided Cardio-facio-cutaneous syndrome
Reversed 1
HGVS NC_000007.13:g.140501302T>C
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015007.30, RCV000033289.8, RCV000080904.6, RCV000208766.1,