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rs104894379

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894379(A;A)
Make rs104894379(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position114398675
GeneTBX5
is asnp
is mentioned by
dbSNPrs104894379
ebirs104894379
HLIrs104894379
Exacrs104894379
Varsomers104894379
Maprs104894379
PheGenIrs104894379
hapmaprs104894379
1000 genomesrs104894379
hgdprs104894379
ensemblrs104894379
gopubmedrs104894379
geneviewrs104894379
scholarrs104894379
googlers104894379
pharmgkbrs104894379
gwascentralrs104894379
openSNPrs104894379
23andMers104894379
23andMe allrs104894379
SNP Nexus

SNPshotrs104894379
SNPdbers104894379
MSV3drs104894379
GWAS Ctlgrs104894379
Max Magnitude0
OMIM601620
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894379(A;A)
Alt rs104894379(A;A)
Reference rs104894379(C;C)
Significance Pathogenic
Disease Holt-Oram syndrome
Variation info
Gene TBX5
CLNDBN Holt-Oram syndrome
Reversed 1
HGVS NC_000012.11:g.114836480G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008463.2,