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rs397516828

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397516828(C;G)
Make rs397516828(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position12604188
GeneRAF1
is asnp
is mentioned by
dbSNPrs397516828
ebirs397516828
HLIrs397516828
Exacrs397516828
Varsomers397516828
Maprs397516828
PheGenIrs397516828
hapmaprs397516828
1000 genomesrs397516828
hgdprs397516828
ensemblrs397516828
gopubmedrs397516828
geneviewrs397516828
scholarrs397516828
googlers397516828
pharmgkbrs397516828
gwascentralrs397516828
openSNPrs397516828
23andMers397516828
23andMe allrs397516828
SNP Nexus

SNPshotrs397516828
SNPdbers397516828
MSV3drs397516828
GWAS Ctlgrs397516828
Max Magnitude0
ClinVar
Risk rs397516828(G,T;G,T)
Alt rs397516828(G,T;G,T)
Reference rs397516828(C;C)
Significance Pathogenic
Disease Noonan syndrome 5 Noonan syndrome not provided
Variation info
Gene RAF1
CLNDBN Noonan syndrome 5 Noonan syndrome not provided
Reversed 1
HGVS NC_000003.11:g.12645687G>A; NC_000003.11:g.12645687G>C
CLNSRC ClinVar
CLNACC RCV000106325.3, RCV000211850.1, RCV000037706.4, RCV000159077.1,