Have questions? Visit https://www.reddit.com/r/SNPedia

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
dbSNP (classic)rs397517148
ClinGenrs397517148
ebirs397517148
HLIrs397517148
Exacrs397517148
Gnomadrs397517148
Varsomers397517148
LitVarrs397517148
Maprs397517148
PheGenIrs397517148
Biobankrs397517148
1000 genomesrs397517148
hgdprs397517148
ensemblrs397517148
geneviewrs397517148
scholarrs397517148
googlers397517148
pharmgkbrs397517148
gwascentralrs397517148
openSNPrs397517148
23andMers397517148
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
Variation info
Gene SOS1
CLNDBN Noonan syndrome
Reversed 1
HGVS NC_000002.11:g.39250269C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000038514.2,