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rs397507526

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397507526(G;G)
Make rs397507526(G;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position112472972
GenePTPN11
is asnp
is mentioned by
dbSNPrs397507526
ebirs397507526
HLIrs397507526
Exacrs397507526
Varsomers397507526
Maprs397507526
PheGenIrs397507526
hapmaprs397507526
1000 genomesrs397507526
hgdprs397507526
ensemblrs397507526
gopubmedrs397507526
geneviewrs397507526
scholarrs397507526
googlers397507526
pharmgkbrs397507526
gwascentralrs397507526
openSNPrs397507526
23andMers397507526
23andMe allrs397507526
SNP Nexus

SNPshotrs397507526
SNPdbers397507526
MSV3drs397507526
GWAS Ctlgrs397507526
Max Magnitude0
ClinVar
Risk rs397507526(A,G;A,G)
Alt rs397507526(A,G;A,G)
Reference rs397507526(T;T)
Significance Pathogenic
Disease Rasopathy Noonan syndrome 1
Variation info
Gene PTPN11
CLNDBN Rasopathy Noonan syndrome 1
Reversed 0
HGVS NC_000012.11:g.112910776T>G
CLNSRC ClinVar
CLNACC RCV000033500.2, RCV000106324.1,