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

rs267607080

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267607080(C;C)
Make rs267607080(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position39023134
GeneSOS1
is asnp
is mentioned by
dbSNPrs267607080
ebirs267607080
HLIrs267607080
Exacrs267607080
Varsomers267607080
Maprs267607080
PheGenIrs267607080
hapmaprs267607080
1000 genomesrs267607080
hgdprs267607080
ensemblrs267607080
gopubmedrs267607080
geneviewrs267607080
scholarrs267607080
googlers267607080
pharmgkbrs267607080
gwascentralrs267607080
openSNPrs267607080
23andMers267607080
23andMe allrs267607080
SNP Nexus

SNPshotrs267607080
SNPdbers267607080
MSV3drs267607080
GWAS Ctlgrs267607080
Max Magnitude0
ClinVar
Risk rs267607080(C;C)
Alt rs267607080(C;C)
Reference rs267607080(T;T)
Significance Pathogenic
Disease Noonan syndrome 4 not provided Noonan syndrome
Variation info
Gene SOS1
CLNDBN Noonan syndrome 4 not provided Noonan syndrome
Reversed 1
HGVS NC_000002.11:g.39250275A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013733.25, RCV000159161.2, RCV000211853.1,