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rs397517153

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397517153(C;C)
Make rs397517153(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position39022779
GeneSOS1
is asnp
is mentioned by
dbSNPrs397517153
dbSNP (classic)rs397517153
ClinGenrs397517153
ebirs397517153
HLIrs397517153
Exacrs397517153
Gnomadrs397517153
Varsomers397517153
LitVarrs397517153
Maprs397517153
PheGenIrs397517153
Biobankrs397517153
1000 genomesrs397517153
hgdprs397517153
ensemblrs397517153
geneviewrs397517153
scholarrs397517153
googlers397517153
pharmgkbrs397517153
gwascentralrs397517153
openSNPrs397517153
23andMers397517153
SNPshotrs397517153
SNPdbers397517153
MSV3drs397517153
GWAS Ctlgrs397517153
Max Magnitude0
ClinVar
Risk rs397517153(C;C)
Alt rs397517153(C;C)
Reference Rs397517153(T;T)
Significance Pathogenic
Disease Noonan syndrome not provided
Variation info
Gene SOS1
CLNDBN Noonan syndrome not provided
Reversed 1
HGVS NC_000002.11:g.39249920A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000038520.2, RCV000159172.2,