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rs606231228

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231228(C;C)
Make rs606231228(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position140777013
GeneBRAF
is asnp
is mentioned by
dbSNPrs606231228
ebirs606231228
HLIrs606231228
Exacrs606231228
Varsomers606231228
Maprs606231228
PheGenIrs606231228
hapmaprs606231228
1000 genomesrs606231228
hgdprs606231228
ensemblrs606231228
gopubmedrs606231228
geneviewrs606231228
scholarrs606231228
googlers606231228
pharmgkbrs606231228
gwascentralrs606231228
openSNPrs606231228
23andMers606231228
23andMe allrs606231228
SNP Nexus

SNPshotrs606231228
SNPdbers606231228
MSV3drs606231228
GWAS Ctlgrs606231228
Max Magnitude0
ClinVar
Risk rs606231228(C;C)
Alt rs606231228(C;C)
Reference rs606231228(G;G)
Significance Pathogenic
Disease Noonan syndrome 7 Rasopathy Noonan syndrome 1
Variation info
Gene BRAF
CLNDBN Noonan syndrome 7 Rasopathy Noonan syndrome 1
Reversed 1
HGVS NC_000007.13:g.140476813C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000022682.27, RCV000191066.1, RCV000208560.1,