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rs267607079

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607079(C;C)
Make rs267607079(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position39022772
GeneSOS1
is asnp
is mentioned by
dbSNPrs267607079
ebirs267607079
HLIrs267607079
Exacrs267607079
Varsomers267607079
Maprs267607079
PheGenIrs267607079
hapmaprs267607079
1000 genomesrs267607079
hgdprs267607079
ensemblrs267607079
gopubmedrs267607079
geneviewrs267607079
scholarrs267607079
googlers267607079
pharmgkbrs267607079
gwascentralrs267607079
openSNPrs267607079
23andMers267607079
23andMe allrs267607079
SNP Nexus

SNPshotrs267607079
SNPdbers267607079
MSV3drs267607079
GWAS Ctlgrs267607079
Max Magnitude0
ClinVar
Risk rs267607079(C,T;C,T)
Alt rs267607079(C,T;C,T)
Reference rs267607079(G;G)
Significance Pathogenic
Disease Noonan syndrome Rasopathy not provided Noonan syndrome 4
Variation info
Gene SOS1
CLNDBN Noonan syndrome Rasopathy not provided Noonan syndrome 4
Reversed 1
HGVS NC_000002.11:g.39249913C>A; NC_000002.11:g.39249913C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000038525.2, RCV000149832.3, RCV000213008.1, RCV000013732.25, RCV000156992.1, RCV000159177.2,