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rs139539448

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs139539448(C;C)
Make rs139539448(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position92005874
GeneTRIP11
is asnp
is mentioned by
dbSNPrs139539448
ebirs139539448
HLIrs139539448
Exacrs139539448
Varsomers139539448
Maprs139539448
PheGenIrs139539448
hapmaprs139539448
1000 genomesrs139539448
hgdprs139539448
ensemblrs139539448
gopubmedrs139539448
geneviewrs139539448
scholarrs139539448
googlers139539448
pharmgkbrs139539448
gwascentralrs139539448
openSNPrs139539448
23andMers139539448
23andMe allrs139539448
SNP Nexus

SNPshotrs139539448
SNPdbers139539448
MSV3drs139539448
GWAS Ctlgrs139539448
GMAF0.001837
Max Magnitude0
ClinVar
Risk rs139539448(C;C)
Alt rs139539448(C;C)
Reference rs139539448(T;T)
Significance Pathogenic
Disease Achondrogenesis
Variation info
Gene TRIP11
CLNDBN Achondrogenesis, type IA
Reversed 0
HGVS NC_000014.8:g.92472218T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005846.4,