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rs587782972

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587782972(G;T)
Make rs587782972(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position12591729
GeneRAF1
is asnp
is mentioned by
dbSNPrs587782972
dbSNP (classic)rs587782972
ClinGenrs587782972
ebirs587782972
HLIrs587782972
Exacrs587782972
Gnomadrs587782972
Varsomers587782972
LitVarrs587782972
Maprs587782972
PheGenIrs587782972
Biobankrs587782972
1000 genomesrs587782972
hgdprs587782972
ensemblrs587782972
geneviewrs587782972
scholarrs587782972
googlers587782972
pharmgkbrs587782972
gwascentralrs587782972
openSNPrs587782972
23andMers587782972
SNPshotrs587782972
SNPdbers587782972
MSV3drs587782972
GWAS Ctlgrs587782972
Max Magnitude0
ClinVar
Risk rs587782972(T;T)
Alt rs587782972(T;T)
Reference Rs587782972(G;G)
Significance Probable-Pathogenic
Disease Noonan syndrome
Variation info
Gene RAF1
CLNDBN Noonan syndrome
Reversed 1
HGVS NC_000003.11:g.12633228C>A
CLNSRC
CLNACC RCV000143944.1,