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rs397517150

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397517150(C;C)
Make rs397517150(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position39023118
GeneSOS1
is asnp
is mentioned by
dbSNPrs397517150
ebirs397517150
HLIrs397517150
Exacrs397517150
Varsomers397517150
Maprs397517150
PheGenIrs397517150
hapmaprs397517150
1000 genomesrs397517150
hgdprs397517150
ensemblrs397517150
gopubmedrs397517150
geneviewrs397517150
scholarrs397517150
googlers397517150
pharmgkbrs397517150
gwascentralrs397517150
openSNPrs397517150
23andMers397517150
23andMe allrs397517150
SNP Nexus

SNPshotrs397517150
SNPdbers397517150
MSV3drs397517150
GWAS Ctlgrs397517150
Max Magnitude0
ClinVar
Risk rs397517150(C,G;C,G)
Alt rs397517150(C,G;C,G)
Reference rs397517150(T;T)
Significance Pathogenic
Disease not provided Noonan syndrome
Variation info
Gene SOS1
CLNDBN not provided Noonan syndrome
Reversed 1
HGVS NC_000002.11:g.39250259A>C; NC_000002.11:g.39250259A>G
CLNSRC ClinVar
CLNACC RCV000159165.1, RCV000038516.4, RCV000159164.2,