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rs387906660

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906660(C;T)
Make rs387906660(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position140801550
GeneBRAF
is asnp
is mentioned by
dbSNPrs387906660
ebirs387906660
HLIrs387906660
Exacrs387906660
Varsomers387906660
Maprs387906660
PheGenIrs387906660
hapmaprs387906660
1000 genomesrs387906660
hgdprs387906660
ensemblrs387906660
gopubmedrs387906660
geneviewrs387906660
scholarrs387906660
googlers387906660
pharmgkbrs387906660
gwascentralrs387906660
openSNPrs387906660
23andMers387906660
23andMe allrs387906660
SNP Nexus

SNPshotrs387906660
SNPdbers387906660
MSV3drs387906660
GWAS Ctlgrs387906660
Max Magnitude0
ClinVar
Risk rs387906660(A,G,T;A,G,T)
Alt rs387906660(A,G,T;A,G,T)
Reference rs387906660(C;C)
Significance Pathogenic
Disease Noonan syndrome 7 not provided Noonan syndrome 1 Noonan syndrome Rasopathy
Variation info
Gene BRAF
CLNDBN Noonan syndrome 7 not provided Noonan syndrome 1 Noonan syndrome Rasopathy
Reversed 1
HGVS NC_000007.13:g.140501350G>A; NC_000007.13:g.140501350G>C; NC_000007.13:g.140501350G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022678.29, RCV000033281.4, RCV000208540.1, RCV000211753.1, RCV000022679.27, RCV000033280.2, RCV000208548.1, RCV000037953.3,