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rs397517151

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397517151(C;C)
Make rs397517151(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position39023016
GeneSOS1
is asnp
is mentioned by
dbSNPrs397517151
dbSNP (classic)rs397517151
ClinGenrs397517151
ebirs397517151
HLIrs397517151
Exacrs397517151
Gnomadrs397517151
Varsomers397517151
LitVarrs397517151
Maprs397517151
PheGenIrs397517151
Biobankrs397517151
1000 genomesrs397517151
hgdprs397517151
ensemblrs397517151
geneviewrs397517151
scholarrs397517151
googlers397517151
pharmgkbrs397517151
gwascentralrs397517151
openSNPrs397517151
23andMers397517151
SNPshotrs397517151
SNPdbers397517151
MSV3drs397517151
GWAS Ctlgrs397517151
Max Magnitude0
ClinVar
Risk rs397517151(C;C)
Alt rs397517151(C;C)
Reference Rs397517151(G;G)
Significance Probable-Pathogenic
Disease Noonan syndrome
Variation info
Gene SOS1
CLNDBN Noonan syndrome
Reversed 1
HGVS NC_000002.11:g.39250157C>G
CLNSRC ClinVar
CLNACC RCV000038517.2,