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rs397517164

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397517164(A;A)
Make rs397517164(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position39058696
GeneSOS1
is asnp
is mentioned by
dbSNPrs397517164
ebirs397517164
HLIrs397517164
Exacrs397517164
Varsomers397517164
Maprs397517164
PheGenIrs397517164
hapmaprs397517164
1000 genomesrs397517164
hgdprs397517164
ensemblrs397517164
gopubmedrs397517164
geneviewrs397517164
scholarrs397517164
googlers397517164
pharmgkbrs397517164
gwascentralrs397517164
openSNPrs397517164
23andMers397517164
23andMe allrs397517164
SNP Nexus

SNPshotrs397517164
SNPdbers397517164
MSV3drs397517164
GWAS Ctlgrs397517164
Max Magnitude0
ClinVar
Risk rs397517164(A;A)
Alt rs397517164(A;A)
Reference rs397517164(G;G)
Significance Pathogenic
Disease Noonan syndrome Rasopathy
Variation info
Gene SOS1
CLNDBN Noonan syndrome Rasopathy
Reversed 1
HGVS NC_000002.11:g.39285837C>T
CLNSRC ClinVar
CLNACC RCV000038546.2, RCV000159144.1,