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rs104894381

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894381(A;A)
Make rs104894381(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position114401830
GeneTBX5
is asnp
is mentioned by
dbSNPrs104894381
ebirs104894381
HLIrs104894381
Exacrs104894381
Varsomers104894381
Maprs104894381
PheGenIrs104894381
hapmaprs104894381
1000 genomesrs104894381
hgdprs104894381
ensemblrs104894381
gopubmedrs104894381
geneviewrs104894381
scholarrs104894381
googlers104894381
pharmgkbrs104894381
gwascentralrs104894381
openSNPrs104894381
23andMers104894381
23andMe allrs104894381
SNP Nexus

SNPshotrs104894381
SNPdbers104894381
MSV3drs104894381
GWAS Ctlgrs104894381
Max Magnitude0
OMIM601620
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894381(A;A)
Alt rs104894381(A;A)
Reference rs104894381(G;G)
Significance Pathogenic
Disease Holt-Oram syndrome
Variation info
Gene TBX5
CLNDBN Holt-Oram syndrome
Reversed 1
HGVS NC_000012.11:g.114839635C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008458.2,