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rs397517163

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397517163(C;C)
Make rs397517163(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position38996981
GeneSOS1
is asnp
is mentioned by
dbSNPrs397517163
ebirs397517163
HLIrs397517163
Exacrs397517163
Varsomers397517163
Maprs397517163
PheGenIrs397517163
hapmaprs397517163
1000 genomesrs397517163
hgdprs397517163
ensemblrs397517163
gopubmedrs397517163
geneviewrs397517163
scholarrs397517163
googlers397517163
pharmgkbrs397517163
gwascentralrs397517163
openSNPrs397517163
23andMers397517163
23andMe allrs397517163
SNP Nexus

SNPshotrs397517163
SNPdbers397517163
MSV3drs397517163
GWAS Ctlgrs397517163
Max Magnitude0
ClinVar
Risk rs397517163(C;C)
Alt rs397517163(C;C)
Reference rs397517163(T;T)
Significance Probable-Pathogenic
Disease Noonan syndrome
Variation info
Gene SOS1
CLNDBN Noonan syndrome
Reversed 1
HGVS NC_000002.11:g.39224122A>G
CLNSRC ClinVar
CLNACC RCV000038544.2,