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rs397507510

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397507510(C;C)
Make rs397507510(C;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position112450361
GenePTPN11
is asnp
is mentioned by
dbSNPrs397507510
ebirs397507510
HLIrs397507510
Exacrs397507510
Varsomers397507510
Maprs397507510
PheGenIrs397507510
hapmaprs397507510
1000 genomesrs397507510
hgdprs397507510
ensemblrs397507510
gopubmedrs397507510
geneviewrs397507510
scholarrs397507510
googlers397507510
pharmgkbrs397507510
gwascentralrs397507510
openSNPrs397507510
23andMers397507510
23andMe allrs397507510
SNP Nexus

SNPshotrs397507510
SNPdbers397507510
MSV3drs397507510
GWAS Ctlgrs397507510
Max Magnitude0
ClinVar
Risk rs397507510(A,C;A,C)
Alt rs397507510(A,C;A,C)
Reference rs397507510(G;G)
Significance Pathogenic
Disease Rasopathy not provided Juvenile myelomonocytic leukemia
Variation info
Gene PTPN11
CLNDBN Rasopathy not provided Juvenile myelomonocytic leukemia
Reversed 0
HGVS NC_000012.11:g.112888165G>A; NC_000012.11:g.112888165G>C; NC_000012.11:g.112888165G>T
CLNSRC ClinVar
CLNACC RCV000033463.5, RCV000157678.1, RCV000033462.4, RCV000215649.1,