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rs397517174

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397517174(C;C)
Make rs397517174(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position39054822
GeneSOS1
is asnp
is mentioned by
dbSNPrs397517174
dbSNP (classic)rs397517174
ClinGenrs397517174
ebirs397517174
HLIrs397517174
Exacrs397517174
Gnomadrs397517174
Varsomers397517174
LitVarrs397517174
Maprs397517174
PheGenIrs397517174
Biobankrs397517174
1000 genomesrs397517174
hgdprs397517174
ensemblrs397517174
geneviewrs397517174
scholarrs397517174
googlers397517174
pharmgkbrs397517174
gwascentralrs397517174
openSNPrs397517174
23andMers397517174
SNPshotrs397517174
SNPdbers397517174
MSV3drs397517174
GWAS Ctlgrs397517174
Max Magnitude0
ClinVar
Risk rs397517174(C;C) rs397517174(G;G)
Alt rs397517174(C;C) rs397517174(G;G)
Reference Rs397517174(T;T)
Significance Probable-Pathogenic
Disease not specified Rasopathy Noonan syndrome
Variation info
Gene SOS1
CLNDBN not specified Rasopathy Noonan syndrome
Reversed 1
HGVS NC_000002.11:g.39281963A>C; NC_000002.11:g.39281963A>G
CLNSRC ClinVar
CLNACC RCV000038563.2, RCV000466303.1, RCV000038562.2,