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rs137852813

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852813(G;G)
Make rs137852813(G;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position39051202
GeneSOS1
is asnp
is mentioned by
dbSNPrs137852813
ebirs137852813
HLIrs137852813
Exacrs137852813
Varsomers137852813
Maprs137852813
PheGenIrs137852813
hapmaprs137852813
1000 genomesrs137852813
hgdprs137852813
ensemblrs137852813
gopubmedrs137852813
geneviewrs137852813
scholarrs137852813
googlers137852813
pharmgkbrs137852813
gwascentralrs137852813
openSNPrs137852813
23andMers137852813
23andMe allrs137852813
SNP Nexus

SNPshotrs137852813
SNPdbers137852813
MSV3drs137852813
GWAS Ctlgrs137852813
Max Magnitude0
OMIM182530
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852813(C,G;C,G)
Alt rs137852813(C,G;C,G)
Reference rs137852813(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.39278343A>C; NC_000002.11:g.39278343A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013730.23, RCV000157691.2, RCV000211854.1, RCV000157690.2, RCV000208414.2,