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rs387907158

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907158(A;T)
Make rs387907158(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position112450475
GenePTPN11
is asnp
is mentioned by
dbSNPrs387907158
dbSNP (classic)rs387907158
ClinGenrs387907158
ebirs387907158
HLIrs387907158
Exacrs387907158
Gnomadrs387907158
Varsomers387907158
LitVarrs387907158
Maprs387907158
PheGenIrs387907158
Biobankrs387907158
1000 genomesrs387907158
hgdprs387907158
ensemblrs387907158
geneviewrs387907158
scholarrs387907158
googlers387907158
pharmgkbrs387907158
gwascentralrs387907158
openSNPrs387907158
23andMers387907158
SNPshotrs387907158
SNPdbers387907158
MSV3drs387907158
GWAS Ctlgrs387907158
Max Magnitude0
ClinVar
Risk rs387907158(T;T)
Alt rs387907158(T;T)
Reference Rs387907158(A;A)
Significance Pathogenic
Disease Metachondromatosis
Variation info
Gene PTPN11
CLNDBN Metachondromatosis
Reversed 0
HGVS NC_000012.11:g.112888279A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024261.24,