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rs267606989

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606989(C;T)
Make rs267606989(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position112453274
GenePTPN11
is asnp
is mentioned by
dbSNPrs267606989
ebirs267606989
HLIrs267606989
Exacrs267606989
Varsomers267606989
Maprs267606989
PheGenIrs267606989
hapmaprs267606989
1000 genomesrs267606989
hgdprs267606989
ensemblrs267606989
gopubmedrs267606989
geneviewrs267606989
scholarrs267606989
googlers267606989
pharmgkbrs267606989
gwascentralrs267606989
openSNPrs267606989
23andMers267606989
23andMe allrs267606989
SNP Nexus

SNPshotrs267606989
SNPdbers267606989
MSV3drs267606989
GWAS Ctlgrs267606989
Max Magnitude0
ClinVar
Risk rs267606989(T;T)
Alt rs267606989(T;T)
Reference rs267606989(C;C)
Significance Pathogenic
Disease Metachondromatosis Rasopathy
Variation info
Gene PTPN11
CLNDBN Metachondromatosis Rasopathy
Reversed 0
HGVS NC_000012.11:g.112891078C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014276.26, RCV000033489.2,