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rs1057516042

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516042(-;-)
Make rs1057516042(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position114403794
GeneTBX5
is asnp
is mentioned by
dbSNPrs1057516042
dbSNP (old)rs1057516042
ClinGenrs1057516042
ebirs1057516042
HLIrs1057516042
Exacrs1057516042
Gnomadrs1057516042
Varsomers1057516042
Maprs1057516042
PheGenIrs1057516042
Biobankrs1057516042
1000 genomesrs1057516042
hgdprs1057516042
ensemblrs1057516042
gopubmedrs1057516042
geneviewrs1057516042
scholarrs1057516042
googlers1057516042
pharmgkbrs1057516042
gwascentralrs1057516042
openSNPrs1057516042
23andMers1057516042
23andMe allrs1057516042
SNPshotrs1057516042
SNPdbers1057516042
MSV3drs1057516042
GWAS Ctlgrs1057516042
Max Magnitude0
ClinVar
Risk rs1057516042(-;-)
Alt rs1057516042(-;-)
Reference Rs1057516042(C;C)
Significance Pathogenic
Disease Holt-Oram syndrome
Variation info
Gene TBX5
CLNDBN Holt-Oram syndrome
Reversed 1
HGVS NC_000012.11:g.114841599delG
CLNSRC
CLNACC RCV000408637.1,