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rs104894383

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894383(A;A)
Make rs104894383(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position114403754
GeneTBX5
is asnp
is mentioned by
dbSNPrs104894383
ebirs104894383
HLIrs104894383
Exacrs104894383
Varsomers104894383
Maprs104894383
PheGenIrs104894383
hapmaprs104894383
1000 genomesrs104894383
hgdprs104894383
ensemblrs104894383
gopubmedrs104894383
geneviewrs104894383
scholarrs104894383
googlers104894383
pharmgkbrs104894383
gwascentralrs104894383
openSNPrs104894383
23andMers104894383
23andMe allrs104894383
SNP Nexus

SNPshotrs104894383
SNPdbers104894383
MSV3drs104894383
GWAS Ctlgrs104894383
Max Magnitude0
OMIM601620
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894383(A;A)
Alt rs104894383(A;A)
Reference rs104894383(C;C)
Significance Pathogenic
Disease Holt-Oram syndrome
Variation info
Gene LOC101928456 TBX5
CLNDBN Holt-Oram syndrome
Reversed 1
HGVS NC_000012.11:g.114841559G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008461.2,