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rs878852982

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs878852982(C;T)
Make rs878852982(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position98080921
GeneNANS, TRIM14
is asnp
is mentioned by
dbSNPrs878852982
dbSNP (classic)rs878852982
ClinGenrs878852982
ebirs878852982
HLIrs878852982
Exacrs878852982
Gnomadrs878852982
Varsomers878852982
LitVarrs878852982
Maprs878852982
PheGenIrs878852982
Biobankrs878852982
1000 genomesrs878852982
hgdprs878852982
ensemblrs878852982
geneviewrs878852982
scholarrs878852982
googlers878852982
pharmgkbrs878852982
gwascentralrs878852982
openSNPrs878852982
23andMers878852982
SNPshotrs878852982
SNPdbers878852982
MSV3drs878852982
GWAS Ctlgrs878852982
Max Magnitude0
ClinVar
Risk rs878852982(T;T)
Alt rs878852982(T;T)
Reference Rs878852982(C;C)
Significance Pathogenic
Disease Spondyloepimetaphyseal dysplasia Genevieve type
Variation info
Gene TRIM14 NANS
CLNDBN Spondyloepimetaphyseal dysplasia Genevieve type
Reversed 0
HGVS NC_000009.11:g.100843203C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000224653.2,