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rs878852980

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs878852980(G;T)
Make rs878852980(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position98076967
GeneNANS, TRIM14
is asnp
is mentioned by
dbSNPrs878852980
dbSNP (classic)rs878852980
ClinGenrs878852980
ebirs878852980
HLIrs878852980
Exacrs878852980
Gnomadrs878852980
Varsomers878852980
LitVarrs878852980
Maprs878852980
PheGenIrs878852980
Biobankrs878852980
1000 genomesrs878852980
hgdprs878852980
ensemblrs878852980
geneviewrs878852980
scholarrs878852980
googlers878852980
pharmgkbrs878852980
gwascentralrs878852980
openSNPrs878852980
23andMers878852980
SNPshotrs878852980
SNPdbers878852980
MSV3drs878852980
GWAS Ctlgrs878852980
Max Magnitude0
ClinVar
Risk rs878852980(T;T)
Alt rs878852980(T;T)
Reference Rs878852980(G;G)
Significance Pathogenic
Disease Spondyloepimetaphyseal dysplasia Genevieve type
Variation info
Gene TRIM14 NANS
CLNDBN Spondyloepimetaphyseal dysplasia Genevieve type
Reversed 0
HGVS NC_000009.11:g.100839249G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000224713.2,