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rs727505381

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs727505381(C;C)
Make rs727505381(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position39013523
GeneSOS1
is asnp
is mentioned by
dbSNPrs727505381
dbSNP (classic)rs727505381
ClinGenrs727505381
ebirs727505381
HLIrs727505381
Exacrs727505381
Gnomadrs727505381
Varsomers727505381
LitVarrs727505381
Maprs727505381
PheGenIrs727505381
Biobankrs727505381
1000 genomesrs727505381
hgdprs727505381
ensemblrs727505381
geneviewrs727505381
scholarrs727505381
googlers727505381
pharmgkbrs727505381
gwascentralrs727505381
openSNPrs727505381
23andMers727505381
SNPshotrs727505381
SNPdbers727505381
MSV3drs727505381
GWAS Ctlgrs727505381
Max Magnitude0
ClinVar
Risk rs727505381(C;C)
Alt rs727505381(C;C)
Reference Rs727505381(T;T)
Significance Pathogenic
Disease Noonan syndrome not provided
Variation info
Gene SOS1
CLNDBN Noonan syndrome not provided
Reversed 1
HGVS NC_000002.11:g.39240664A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000156979.1, RCV000159124.3,