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rs397516815

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397516815(A;G)
Make rs397516815(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position12585760
GeneRAF1
is asnp
is mentioned by
dbSNPrs397516815
dbSNP (classic)rs397516815
ClinGenrs397516815
ebirs397516815
HLIrs397516815
Exacrs397516815
Gnomadrs397516815
Varsomers397516815
LitVarrs397516815
Maprs397516815
PheGenIrs397516815
Biobankrs397516815
1000 genomesrs397516815
hgdprs397516815
ensemblrs397516815
geneviewrs397516815
scholarrs397516815
googlers397516815
pharmgkbrs397516815
gwascentralrs397516815
openSNPrs397516815
23andMers397516815
SNPshotrs397516815
SNPdbers397516815
MSV3drs397516815
GWAS Ctlgrs397516815
Max Magnitude0
ClinVar
Risk rs397516815(G;G)
Alt rs397516815(G;G)
Reference Rs397516815(A;A)
Significance Pathogenic
Disease Noonan syndrome not provided
Variation info
Gene RAF1
CLNDBN Noonan syndrome not provided
Reversed 1
HGVS NC_000003.11:g.12627259T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000037675.3, RCV000434022.1,