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rs397516829

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397516829(A;A)
Make rs397516829(A;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position12604184
GeneRAF1
is asnp
is mentioned by
dbSNPrs397516829
dbSNP (classic)rs397516829
ClinGenrs397516829
ebirs397516829
HLIrs397516829
Exacrs397516829
Gnomadrs397516829
Varsomers397516829
LitVarrs397516829
Maprs397516829
PheGenIrs397516829
Biobankrs397516829
1000 genomesrs397516829
hgdprs397516829
ensemblrs397516829
geneviewrs397516829
scholarrs397516829
googlers397516829
pharmgkbrs397516829
gwascentralrs397516829
openSNPrs397516829
23andMers397516829
SNPshotrs397516829
SNPdbers397516829
MSV3drs397516829
GWAS Ctlgrs397516829
Max Magnitude0
ClinVar
Risk rs397516829(A;A)
Alt rs397516829(A;A)
Reference Rs397516829(T;T)
Significance Pathogenic
Disease Noonan syndrome not provided
Variation info
Gene RAF1
CLNDBN Noonan syndrome not provided
Reversed 1
HGVS NC_000003.11:g.12645683A>T
CLNSRC ClinVar
CLNACC RCV000037707.3, RCV000388842.1,