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rs140402727

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs140402727(G;T)
Make rs140402727(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position98078196
GeneNANS
is asnp
is mentioned by
dbSNPrs140402727
ebirs140402727
HLIrs140402727
Exacrs140402727
Varsomers140402727
Maprs140402727
PheGenIrs140402727
hapmaprs140402727
1000 genomesrs140402727
hgdprs140402727
ensemblrs140402727
gopubmedrs140402727
geneviewrs140402727
scholarrs140402727
googlers140402727
pharmgkbrs140402727
gwascentralrs140402727
openSNPrs140402727
23andMers140402727
23andMe allrs140402727
SNP Nexus

SNPshotrs140402727
SNPdbers140402727
MSV3drs140402727
GWAS Ctlgrs140402727
Max Magnitude0
ClinVar
Risk rs140402727(A,T;A,T)
Alt rs140402727(A,T;A,T)
Reference rs140402727(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.100840478G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000224301.1,