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rs397517146

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397517146(A;G)
Make rs397517146(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position39024080
GeneSOS1
is asnp
is mentioned by
dbSNPrs397517146
dbSNP (classic)rs397517146
ClinGenrs397517146
ebirs397517146
HLIrs397517146
Exacrs397517146
Gnomadrs397517146
Varsomers397517146
LitVarrs397517146
Maprs397517146
PheGenIrs397517146
Biobankrs397517146
1000 genomesrs397517146
hgdprs397517146
ensemblrs397517146
geneviewrs397517146
scholarrs397517146
googlers397517146
pharmgkbrs397517146
gwascentralrs397517146
openSNPrs397517146
23andMers397517146
SNPshotrs397517146
SNPdbers397517146
MSV3drs397517146
GWAS Ctlgrs397517146
Max Magnitude0
ClinVar
Risk rs397517146(G;G)
Alt rs397517146(G;G)
Reference Rs397517146(A;A)
Significance Probable-Pathogenic
Disease Noonan syndrome not provided
Variation info
Gene SOS1
CLNDBN Noonan syndrome not provided
Reversed 1
HGVS NC_000002.11:g.39251221T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000038510.2, RCV000482668.1,