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rs863223281

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863223281(A;G)
Make rs863223281(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position92025422
GeneTRIP11
is asnp
is mentioned by
dbSNPrs863223281
dbSNP (classic)rs863223281
ClinGenrs863223281
ebirs863223281
HLIrs863223281
Exacrs863223281
Gnomadrs863223281
Varsomers863223281
LitVarrs863223281
Maprs863223281
PheGenIrs863223281
Biobankrs863223281
1000 genomesrs863223281
hgdprs863223281
ensemblrs863223281
geneviewrs863223281
scholarrs863223281
googlers863223281
pharmgkbrs863223281
gwascentralrs863223281
openSNPrs863223281
23andMers863223281
SNPshotrs863223281
SNPdbers863223281
MSV3drs863223281
GWAS Ctlgrs863223281
Max Magnitude0
ClinVar
Risk rs863223281(G;G)
Alt rs863223281(G;G)
Reference Rs863223281(A;A)
Significance Pathogenic
Disease Achondrogenesis
Variation info
Gene TRIP11
CLNDBN Achondrogenesis, type IA
Reversed 1
HGVS NC_000014.8:g.92491766T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005845.2,