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rs397516891

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397516891(C;G)
Make rs397516891(G;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position140781599
GeneBRAF
is asnp
is mentioned by
dbSNPrs397516891
dbSNP (classic)rs397516891
ClinGenrs397516891
ebirs397516891
HLIrs397516891
Exacrs397516891
Gnomadrs397516891
Varsomers397516891
LitVarrs397516891
Maprs397516891
PheGenIrs397516891
Biobankrs397516891
1000 genomesrs397516891
hgdprs397516891
ensemblrs397516891
geneviewrs397516891
scholarrs397516891
googlers397516891
pharmgkbrs397516891
gwascentralrs397516891
openSNPrs397516891
23andMers397516891
SNPshotrs397516891
SNPdbers397516891
MSV3drs397516891
GWAS Ctlgrs397516891
Max Magnitude0
ClinVar
Risk rs397516891(G;G)
Alt rs397516891(G;G)
Reference Rs397516891(C;C)
Significance Probable-Pathogenic
Disease Noonan syndrome
Variation info
Gene BRAF
CLNDBN Noonan syndrome
Reversed 1
HGVS NC_000007.13:g.140481399G>C
CLNSRC ClinVar
CLNACC RCV000037920.2,