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rs397516807

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397516807(-;-)
Make rs397516807(-;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position112455968
GenePTPN11
is asnp
is mentioned by
dbSNPrs397516807
ebirs397516807
HLIrs397516807
Exacrs397516807
Varsomers397516807
Maprs397516807
PheGenIrs397516807
hapmaprs397516807
1000 genomesrs397516807
hgdprs397516807
ensemblrs397516807
gopubmedrs397516807
geneviewrs397516807
scholarrs397516807
googlers397516807
pharmgkbrs397516807
gwascentralrs397516807
openSNPrs397516807
23andMers397516807
23andMe allrs397516807
SNP Nexus

SNPshotrs397516807
SNPdbers397516807
MSV3drs397516807
GWAS Ctlgrs397516807
Max Magnitude0
ClinVar
Risk rs397516807(;)
Alt rs397516807(;)
Reference rs397516807(A;A)
Significance Pathogenic
Disease Metachondromatosis
Variation info
Gene PTPN11
CLNDBN Metachondromatosis
Reversed 0
HGVS NC_000012.11:g.112893772delA
CLNSRC ClinVar
CLNACC RCV000037654.2,