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rs80338799

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338799(C;T)
Make rs80338799(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position12585745
GeneRAF1
is asnp
is mentioned by
dbSNPrs80338799
ebirs80338799
HLIrs80338799
Exacrs80338799
Varsomers80338799
Maprs80338799
PheGenIrs80338799
hapmaprs80338799
1000 genomesrs80338799
hgdprs80338799
ensemblrs80338799
gopubmedrs80338799
geneviewrs80338799
scholarrs80338799
googlers80338799
pharmgkbrs80338799
gwascentralrs80338799
openSNPrs80338799
23andMers80338799
23andMe allrs80338799
SNP Nexus

SNPshotrs80338799
SNPdbers80338799
MSV3drs80338799
GWAS Ctlgrs80338799
Max Magnitude0
OMIM164760
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80338799(G,T;G,T)
Alt rs80338799(G,T;G,T)
Reference rs80338799(C;C)
Significance Pathogenic
Disease Noonan syndrome with multiple lentigines Noonan syndrome not provided Noonan syndrome 5
Variation info
Gene RAF1
CLNDBN Noonan syndrome with multiple lentigines Noonan syndrome not provided Noonan syndrome 5
Reversed 1
HGVS NC_000003.11:g.12627244G>A; NC_000003.11:g.12627244G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000020507.1, RCV000037676.2, RCV000159086.2, RCV000014988.25,