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rs104894377

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894377(G;T)
Make rs104894377(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position114401863
GeneTBX5
is asnp
is mentioned by
dbSNPrs104894377
ebirs104894377
HLIrs104894377
Exacrs104894377
Varsomers104894377
Maprs104894377
PheGenIrs104894377
hapmaprs104894377
1000 genomesrs104894377
hgdprs104894377
ensemblrs104894377
gopubmedrs104894377
geneviewrs104894377
scholarrs104894377
googlers104894377
pharmgkbrs104894377
gwascentralrs104894377
openSNPrs104894377
23andMers104894377
23andMe allrs104894377
SNP Nexus

SNPshotrs104894377
SNPdbers104894377
MSV3drs104894377
GWAS Ctlgrs104894377
Max Magnitude0
OMIM601620
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894377(T;T)
Alt rs104894377(T;T)
Reference rs104894377(G;G)
Significance Pathogenic
Disease Holt-Oram syndrome
Variation info
Gene TBX5
CLNDBN Holt-Oram syndrome
Reversed 1
HGVS NC_000012.11:g.114839668C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008456.3,