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rs397514484

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514484(C;T)
Make rs397514484(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position114676361
GeneTBX3
is asnp
is mentioned by
dbSNPrs397514484
ebirs397514484
HLIrs397514484
Exacrs397514484
Varsomers397514484
Maprs397514484
PheGenIrs397514484
hapmaprs397514484
1000 genomesrs397514484
hgdprs397514484
ensemblrs397514484
gopubmedrs397514484
geneviewrs397514484
scholarrs397514484
googlers397514484
pharmgkbrs397514484
gwascentralrs397514484
openSNPrs397514484
23andMers397514484
23andMe allrs397514484
SNP Nexus

SNPshotrs397514484
SNPdbers397514484
MSV3drs397514484
GWAS Ctlgrs397514484
Max Magnitude0
ClinVar
Risk rs397514484(T;T)
Alt rs397514484(T;T)
Reference rs397514484(C;C)
Significance Pathogenic
Disease Ulnar-mammary syndrome
Variation info
Gene TBX3
CLNDBN Ulnar-mammary syndrome
Reversed 1
HGVS NC_000012.11:g.115114166G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024600.62,