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rs180177039

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs180177039(A;G)
Make rs180177039(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position140778006
GeneBRAF
is asnp
is mentioned by
dbSNPrs180177039
dbSNP (old)rs180177039
ClinGenrs180177039
ebirs180177039
HLIrs180177039
Exacrs180177039
Gnomadrs180177039
Varsomers180177039
Maprs180177039
PheGenIrs180177039
Biobankrs180177039
1000 genomesrs180177039
hgdprs180177039
ensemblrs180177039
gopubmedrs180177039
geneviewrs180177039
scholarrs180177039
googlers180177039
pharmgkbrs180177039
gwascentralrs180177039
openSNPrs180177039
23andMers180177039
23andMe allrs180177039
SNP Nexus

SNPshotrs180177039
SNPdbers180177039
MSV3drs180177039
GWAS Ctlgrs180177039
Max Magnitude0
ClinVar
Risk rs180177039(C;C) rs180177039(G;G) rs180177039(T;T)
Alt rs180177039(C;C) rs180177039(G;G) rs180177039(T;T)
Reference Rs180177039(A;A)
Significance Pathogenic
Disease not provided Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 1 Downslanted palpebral fissures High forehead Low-set Neonatal respiratory distress Premature birth Pulmonic stenosis Ventricular hypertrophy Ventricular septal defect Webbed neck Wide intermamillary distance
Variation info
Gene BRAF
CLNDBN not provided Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 1 Downslanted palpebral fissures High forehead Low-set, posteriorly rotated ears Neonatal respiratory distress Premature birth Pulmonic stenosis Ventricular hypertrophy Ventricular septal defect Webbed neck Wide intermamillary distance
Reversed 1
HGVS NC_000007.13:g.140477806T>A; NC_000007.13:g.140477806T>C; NC_000007.13:g.140477806T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000033318.4, RCV000037924.2, RCV000015012.27, RCV000207518.2, RCV000211750.1, RCV000414915.1, RCV000033316.4,