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rs387907157

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Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907157(C;T)
Make rs387907157(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position112489092
GenePTPN11
is asnp
is mentioned by
dbSNPrs387907157
ebirs387907157
HLIrs387907157
Exacrs387907157
Varsomers387907157
Maprs387907157
PheGenIrs387907157
hapmaprs387907157
1000 genomesrs387907157
hgdprs387907157
ensemblrs387907157
gopubmedrs387907157
geneviewrs387907157
scholarrs387907157
googlers387907157
pharmgkbrs387907157
gwascentralrs387907157
openSNPrs387907157
23andMers387907157
23andMe allrs387907157
SNP Nexus

SNPshotrs387907157
SNPdbers387907157
MSV3drs387907157
GWAS Ctlgrs387907157
Max Magnitude0
ClinVar
Risk rs387907157(T;T)
Alt rs387907157(T;T)
Reference rs387907157(C;C)
Significance Pathogenic
Disease Metachondromatosis
Variation info
Gene PTPN11
CLNDBN Metachondromatosis
Reversed 0
HGVS NC_000012.11:g.112926896C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024258.25,