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rs397517148

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397517148(A;A)
Make rs397517148(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position39023128
GeneSOS1
is asnp
is mentioned by
dbSNPrs397517148
ebirs397517148
HLIrs397517148
Exacrs397517148
Varsomers397517148
Maprs397517148
PheGenIrs397517148
hapmaprs397517148
1000 genomesrs397517148
hgdprs397517148
ensemblrs397517148
gopubmedrs397517148
geneviewrs397517148
scholarrs397517148
googlers397517148
pharmgkbrs397517148
gwascentralrs397517148
openSNPrs397517148
23andMers397517148
23andMe allrs397517148
SNP Nexus

SNPshotrs397517148
SNPdbers397517148
MSV3drs397517148
GWAS Ctlgrs397517148
Max Magnitude0
ClinVar
Risk rs397517148(A;A)
Alt rs397517148(A;A)
Reference rs397517148(G;G)
Significance Pathogenic
Disease Noonan syndrome Rasopathy
Variation info
Gene SOS1
CLNDBN Noonan syndrome Rasopathy
Reversed 1
HGVS NC_000002.11:g.39250269C>T
CLNSRC ClinVar
CLNACC RCV000038514.2, RCV000159163.1,