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rs397517156

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397517156(A;T)
Make rs397517156(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position39012333
GeneSOS1
is asnp
is mentioned by
dbSNPrs397517156
dbSNP (classic)rs397517156
ClinGenrs397517156
ebirs397517156
HLIrs397517156
Exacrs397517156
Gnomadrs397517156
Varsomers397517156
LitVarrs397517156
Maprs397517156
PheGenIrs397517156
Biobankrs397517156
1000 genomesrs397517156
hgdprs397517156
ensemblrs397517156
geneviewrs397517156
scholarrs397517156
googlers397517156
pharmgkbrs397517156
gwascentralrs397517156
openSNPrs397517156
23andMers397517156
SNPshotrs397517156
SNPdbers397517156
MSV3drs397517156
GWAS Ctlgrs397517156
Max Magnitude0
ClinVar
Risk rs397517156(T;T)
Alt rs397517156(T;T)
Reference Rs397517156(A;A)
Significance Pathogenic
Disease Noonan syndrome not provided not specified
Variation info
Gene SOS1
CLNDBN Noonan syndrome not provided not specified
Reversed 1
HGVS NC_000002.11:g.39239474T>A
CLNSRC ClinVar
CLNACC RCV000038531.2, RCV000159126.2, RCV000207505.1,