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rs398122859

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
(TC;TC) 0 common in clinvar
Make rs398122859(-;-)
Make rs398122859(-;CT)
ReferenceGRCh38 38.1/141
Chromosome12
Position112453215
GenePTPN11
is asnp
is mentioned by
dbSNPrs398122859
ebirs398122859
HLIrs398122859
Exacrs398122859
Varsomers398122859
Maprs398122859
PheGenIrs398122859
hapmaprs398122859
1000 genomesrs398122859
hgdprs398122859
ensemblrs398122859
gopubmedrs398122859
geneviewrs398122859
scholarrs398122859
googlers398122859
pharmgkbrs398122859
gwascentralrs398122859
openSNPrs398122859
23andMers398122859
23andMe allrs398122859
SNP Nexus

SNPshotrs398122859
SNPdbers398122859
MSV3drs398122859
GWAS Ctlgrs398122859
Max Magnitude0
ClinVar
Risk rs398122859(;)
Alt rs398122859(;)
Reference rs398122859(TC;TC)
Significance Pathogenic
Disease Metachondromatosis
Variation info
Gene PTPN11
CLNDBN Metachondromatosis
Reversed 0
HGVS NC_000012.11:g.112891019_112891020delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000024257.24,