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rs587782971

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587782971(C;C)
Make rs587782971(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position12608895
GeneRAF1
is asnp
is mentioned by
dbSNPrs587782971
dbSNP (classic)rs587782971
ClinGenrs587782971
ebirs587782971
HLIrs587782971
Exacrs587782971
Gnomadrs587782971
Varsomers587782971
LitVarrs587782971
Maprs587782971
PheGenIrs587782971
Biobankrs587782971
1000 genomesrs587782971
hgdprs587782971
ensemblrs587782971
geneviewrs587782971
scholarrs587782971
googlers587782971
pharmgkbrs587782971
gwascentralrs587782971
openSNPrs587782971
23andMers587782971
SNPshotrs587782971
SNPdbers587782971
MSV3drs587782971
GWAS Ctlgrs587782971
Max Magnitude0
ClinVar
Risk rs587782971(C;C)
Alt rs587782971(C;C)
Reference Rs587782971(T;T)
Significance Probable-Pathogenic
Disease Noonan syndrome
Variation info
Gene RAF1
CLNDBN Noonan syndrome
Reversed 1
HGVS NC_000003.11:g.12650394A>G
CLNSRC
CLNACC RCV000143943.1,