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rs121434594

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434594(C;T)
Make rs121434594(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position12604189
GeneRAF1
is asnp
is mentioned by
dbSNPrs121434594
ebirs121434594
HLIrs121434594
Exacrs121434594
Varsomers121434594
Maprs121434594
PheGenIrs121434594
hapmaprs121434594
1000 genomesrs121434594
hgdprs121434594
ensemblrs121434594
gopubmedrs121434594
geneviewrs121434594
scholarrs121434594
googlers121434594
pharmgkbrs121434594
gwascentralrs121434594
openSNPrs121434594
23andMers121434594
23andMe allrs121434594
SNP Nexus

SNPshotrs121434594
SNPdbers121434594
MSV3drs121434594
GWAS Ctlgrs121434594
Max Magnitude0
OMIM164760
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434594(A,G,T;A,G,T)
Alt rs121434594(A,G,T;A,G,T)
Reference rs121434594(C;C)
Significance Pathogenic
Disease Noonan syndrome 5 not provided Primary familial hypertrophic cardiomyopathy Noonan syndrome Rasopathy
Variation info
Gene RAF1
CLNDBN Noonan syndrome 5 not provided Primary familial hypertrophic cardiomyopathy Noonan syndrome Rasopathy
Reversed 1
HGVS NC_000003.11:g.12645688G>A; NC_000003.11:g.12645688G>C; NC_000003.11:g.12645688G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014987.27, RCV000159076.2, RCV000208421.1, RCV000211849.1, RCV000037704.4, RCV000208199.1, RCV000211848.1, RCV000037703.2, RCV000149827.1,