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rs398122857

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GTACG;GTACG) 0 common in clinvar
Make rs398122857(-;-)
Make rs398122857(-;GTACG)
ReferenceGRCh38 38.1/141
Chromosome12
Position112453271
GenePTPN11
is asnp
is mentioned by
dbSNPrs398122857
ebirs398122857
HLIrs398122857
Exacrs398122857
Varsomers398122857
Maprs398122857
PheGenIrs398122857
hapmaprs398122857
1000 genomesrs398122857
hgdprs398122857
ensemblrs398122857
gopubmedrs398122857
geneviewrs398122857
scholarrs398122857
googlers398122857
pharmgkbrs398122857
gwascentralrs398122857
openSNPrs398122857
23andMers398122857
23andMe allrs398122857
SNP Nexus

SNPshotrs398122857
SNPdbers398122857
MSV3drs398122857
GWAS Ctlgrs398122857
Max Magnitude0
ClinVar
Risk rs398122857(;)
Alt rs398122857(;)
Reference rs398122857(GTACG;GTACG)
Significance Pathogenic
Disease Metachondromatosis
Variation info
Gene PTPN11
CLNDBN Metachondromatosis
Reversed 0
HGVS NC_000012.11:g.112891075_112891079delGTACG
CLNSRC OMIM Allelic Variant
CLNACC RCV000024255.26,