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rs397517180

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397517180(G;T)
Make rs397517180(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position39035440
GeneSOS1
is asnp
is mentioned by
dbSNPrs397517180
ebirs397517180
HLIrs397517180
Exacrs397517180
Varsomers397517180
Maprs397517180
PheGenIrs397517180
hapmaprs397517180
1000 genomesrs397517180
hgdprs397517180
ensemblrs397517180
gopubmedrs397517180
geneviewrs397517180
scholarrs397517180
googlers397517180
pharmgkbrs397517180
gwascentralrs397517180
openSNPrs397517180
23andMers397517180
23andMe allrs397517180
SNP Nexus

SNPshotrs397517180
SNPdbers397517180
MSV3drs397517180
GWAS Ctlgrs397517180
Max Magnitude0
ClinVar
Risk rs397517180(T;T)
Alt rs397517180(T;T)
Reference rs397517180(G;G)
Significance Pathogenic
Disease Noonan syndrome
Variation info
Gene SOS1
CLNDBN Noonan syndrome
Reversed 1
HGVS NC_000002.11:g.39262581C>A
CLNSRC ClinVar
CLNACC RCV000038575.2,