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rs398122862

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122862(G;T)
Make rs398122862(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position112482073
GenePTPN11
is asnp
is mentioned by
dbSNPrs398122862
ebirs398122862
HLIrs398122862
Exacrs398122862
Varsomers398122862
Maprs398122862
PheGenIrs398122862
hapmaprs398122862
1000 genomesrs398122862
hgdprs398122862
ensemblrs398122862
gopubmedrs398122862
geneviewrs398122862
scholarrs398122862
googlers398122862
pharmgkbrs398122862
gwascentralrs398122862
openSNPrs398122862
23andMers398122862
23andMe allrs398122862
SNP Nexus

SNPshotrs398122862
SNPdbers398122862
MSV3drs398122862
GWAS Ctlgrs398122862
Max Magnitude0
ClinVar
Risk rs398122862(T;T)
Alt rs398122862(T;T)
Reference rs398122862(G;G)
Significance Pathogenic
Disease Metachondromatosis
Variation info
Gene PTPN11
CLNDBN Metachondromatosis
Reversed 0
HGVS NC_000012.11:g.112919877G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024262.25,