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rs137852814

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852814(A;G)
Make rs137852814(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position39022774
GeneSOS1
is asnp
is mentioned by
dbSNPrs137852814
ebirs137852814
HLIrs137852814
Exacrs137852814
Varsomers137852814
Maprs137852814
PheGenIrs137852814
hapmaprs137852814
1000 genomesrs137852814
hgdprs137852814
ensemblrs137852814
gopubmedrs137852814
geneviewrs137852814
scholarrs137852814
googlers137852814
pharmgkbrs137852814
gwascentralrs137852814
openSNPrs137852814
23andMers137852814
23andMe allrs137852814
SNP Nexus

SNPshotrs137852814
SNPdbers137852814
MSV3drs137852814
GWAS Ctlgrs137852814
Max Magnitude0
OMIM182530
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852814(G;G)
Alt rs137852814(G;G)
Reference rs137852814(A;A)
Significance Pathogenic
Disease Noonan syndrome 4 Noonan syndrome not provided Rasopathy
Variation info
Gene SOS1
CLNDBN Noonan syndrome 4 Noonan syndrome not provided Rasopathy
Reversed 1
HGVS NC_000002.11:g.39249915T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013731.18, RCV000156980.1, RCV000157693.1, RCV000159174.4,