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rs137852812

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852812(A;A)
Make rs137852812(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position39051211
GeneSOS1
is asnp
is mentioned by
dbSNPrs137852812
ebirs137852812
HLIrs137852812
Exacrs137852812
Varsomers137852812
Maprs137852812
PheGenIrs137852812
hapmaprs137852812
1000 genomesrs137852812
hgdprs137852812
ensemblrs137852812
gopubmedrs137852812
geneviewrs137852812
scholarrs137852812
googlers137852812
pharmgkbrs137852812
gwascentralrs137852812
openSNPrs137852812
23andMers137852812
23andMe allrs137852812
SNP Nexus

SNPshotrs137852812
SNPdbers137852812
MSV3drs137852812
GWAS Ctlgrs137852812
Max Magnitude0
OMIM182530
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852812(A;A)
Alt rs137852812(A;A)
Reference rs137852812(C;C)
Significance Pathogenic
Disease Noonan syndrome 4 Noonan syndrome Rasopathy not provided
Variation info
Gene SOS1
CLNDBN Noonan syndrome 4 Noonan syndrome Rasopathy not provided
Reversed 1
HGVS NC_000002.11:g.39278352G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013729.25, RCV000038570.3, RCV000149833.3, RCV000213007.1,