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rs397516822

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397516822(A;G)
Make rs397516822(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position12608823
GeneRAF1
is asnp
is mentioned by
dbSNPrs397516822
dbSNP (classic)rs397516822
ClinGenrs397516822
ebirs397516822
HLIrs397516822
Exacrs397516822
Gnomadrs397516822
Varsomers397516822
LitVarrs397516822
Maprs397516822
PheGenIrs397516822
Biobankrs397516822
1000 genomesrs397516822
hgdprs397516822
ensemblrs397516822
geneviewrs397516822
scholarrs397516822
googlers397516822
pharmgkbrs397516822
gwascentralrs397516822
openSNPrs397516822
23andMers397516822
SNPshotrs397516822
SNPdbers397516822
MSV3drs397516822
GWAS Ctlgrs397516822
Max Magnitude0
ClinVar
Risk rs397516822(G;G)
Alt rs397516822(G;G)
Reference Rs397516822(A;A)
Significance Pathogenic
Disease Noonan syndrome
Variation info
Gene RAF1
CLNDBN Noonan syndrome
Reversed 1
HGVS NC_000003.11:g.12650322T>C
CLNSRC ClinVar
CLNACC RCV000037693.2,