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rs104894382

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894382(C;T)
Make rs104894382(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position114385522
GeneTBX5
is asnp
is mentioned by
dbSNPrs104894382
ebirs104894382
HLIrs104894382
Exacrs104894382
Varsomers104894382
Maprs104894382
PheGenIrs104894382
hapmaprs104894382
1000 genomesrs104894382
hgdprs104894382
ensemblrs104894382
gopubmedrs104894382
geneviewrs104894382
scholarrs104894382
googlers104894382
pharmgkbrs104894382
gwascentralrs104894382
openSNPrs104894382
23andMers104894382
23andMe allrs104894382
SNP Nexus

SNPshotrs104894382
SNPdbers104894382
MSV3drs104894382
GWAS Ctlgrs104894382
Max Magnitude0
OMIM601620
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894382(T;T)
Alt rs104894382(T;T)
Reference rs104894382(C;C)
Significance Pathogenic
Disease Holt-Oram syndrome Heart not provided
Variation info
Gene TBX5
CLNDBN Holt-Oram syndrome Heart, malformation of not provided
Reversed 1
HGVS NC_000012.11:g.114823327G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008459.2, RCV000128627.1, RCV000200682.1,