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rs398122860

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398122860(-;-)
Make rs398122860(-;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position112486565
GenePTPN11
is asnp
is mentioned by
dbSNPrs398122860
ebirs398122860
HLIrs398122860
Exacrs398122860
Varsomers398122860
Maprs398122860
PheGenIrs398122860
hapmaprs398122860
1000 genomesrs398122860
hgdprs398122860
ensemblrs398122860
gopubmedrs398122860
geneviewrs398122860
scholarrs398122860
googlers398122860
pharmgkbrs398122860
gwascentralrs398122860
openSNPrs398122860
23andMers398122860
23andMe allrs398122860
SNP Nexus

SNPshotrs398122860
SNPdbers398122860
MSV3drs398122860
GWAS Ctlgrs398122860
Max Magnitude0
ClinVar
Risk rs398122860(;)
Alt rs398122860(;)
Reference rs398122860(C;C)
Significance Pathogenic
Disease Metachondromatosis
Variation info
Gene PTPN11
CLNDBN Metachondromatosis
Reversed 0
HGVS NC_000012.11:g.112924369delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000024259.26,