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rs80338798

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338798(A;A)
Make rs80338798(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position12585761
GeneRAF1
is asnp
is mentioned by
dbSNPrs80338798
dbSNP (classic)rs80338798
ClinGenrs80338798
ebirs80338798
HLIrs80338798
Exacrs80338798
Gnomadrs80338798
Varsomers80338798
LitVarrs80338798
Maprs80338798
PheGenIrs80338798
Biobankrs80338798
1000 genomesrs80338798
hgdprs80338798
ensemblrs80338798
geneviewrs80338798
scholarrs80338798
googlers80338798
pharmgkbrs80338798
gwascentralrs80338798
openSNPrs80338798
23andMers80338798
SNPshotrs80338798
SNPdbers80338798
MSV3drs80338798
GWAS Ctlgrs80338798
Max Magnitude0
ClinVar
Risk rs80338798(A;A)
Alt rs80338798(A;A)
Reference Rs80338798(G;G)
Significance Pathogenic
Disease Noonan syndrome with multiple lentigines
Variation info
Gene RAF1
CLNDBN Noonan syndrome with multiple lentigines
Reversed 1
HGVS NC_000003.11:g.12627260C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000020506.1,