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rs398122861

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398122861(A;C)
Make rs398122861(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position112455948
GenePTPN11
is asnp
is mentioned by
dbSNPrs398122861
ebirs398122861
HLIrs398122861
Exacrs398122861
Varsomers398122861
Maprs398122861
PheGenIrs398122861
hapmaprs398122861
1000 genomesrs398122861
hgdprs398122861
ensemblrs398122861
gopubmedrs398122861
geneviewrs398122861
scholarrs398122861
googlers398122861
pharmgkbrs398122861
gwascentralrs398122861
openSNPrs398122861
23andMers398122861
23andMe allrs398122861
SNP Nexus

SNPshotrs398122861
SNPdbers398122861
MSV3drs398122861
GWAS Ctlgrs398122861
Max Magnitude0
ClinVar
Risk rs398122861(C;C)
Alt rs398122861(C;C)
Reference rs398122861(A;A)
Significance Pathogenic
Disease Metachondromatosis
Variation info
Gene PTPN11
CLNDBN Metachondromatosis
Reversed 0
HGVS NC_000012.11:g.112893752A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000024260.18,