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rs104894384

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894384(C;C)
Make rs104894384(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position114401907
GeneTBX5
is asnp
is mentioned by
dbSNPrs104894384
ebirs104894384
HLIrs104894384
Exacrs104894384
Varsomers104894384
Maprs104894384
PheGenIrs104894384
hapmaprs104894384
1000 genomesrs104894384
hgdprs104894384
ensemblrs104894384
gopubmedrs104894384
geneviewrs104894384
scholarrs104894384
googlers104894384
pharmgkbrs104894384
gwascentralrs104894384
openSNPrs104894384
23andMers104894384
23andMe allrs104894384
SNP Nexus

SNPshotrs104894384
SNPdbers104894384
MSV3drs104894384
GWAS Ctlgrs104894384
Max Magnitude0
OMIM601620
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894384(C;C)
Alt rs104894384(C;C)
Reference rs104894384(T;T)
Significance Pathogenic
Disease Holt-Oram syndrome
Variation info
Gene TBX5
CLNDBN Holt-Oram syndrome
Reversed 1
HGVS NC_000012.11:g.114839712A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008462.2,