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rs587777113

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777113(A;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position30086225
GeneTBX6
is asnp
is mentioned by
dbSNPrs587777113
ebirs587777113
HLIrs587777113
Exacrs587777113
Varsomers587777113
Maprs587777113
PheGenIrs587777113
hapmaprs587777113
1000 genomesrs587777113
hgdprs587777113
ensemblrs587777113
gopubmedrs587777113
geneviewrs587777113
scholarrs587777113
googlers587777113
pharmgkbrs587777113
gwascentralrs587777113
openSNPrs587777113
23andMers587777113
23andMe allrs587777113
SNP Nexus

SNPshotrs587777113
SNPdbers587777113
MSV3drs587777113
GWAS Ctlgrs587777113
Max Magnitude0
ClinVar
Risk rs587777113(T;T)
Alt rs587777113(T;T)
Reference rs587777113(A;A)
Significance Pathogenic
Disease Spondylocostal dysostosis 5
Variation info
Gene TBX6
CLNDBN Spondylocostal dysostosis 5
Reversed 1
HGVS NC_000016.9:g.30097546T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000087033.4,