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rs878853750

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs878853750(-;-)
Make rs878853750(-;A)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position114366189
GeneTBX5
is asnp
is mentioned by
dbSNPrs878853750
ebirs878853750
HLIrs878853750
Exacrs878853750
Varsomers878853750
Maprs878853750
PheGenIrs878853750
hapmaprs878853750
1000 genomesrs878853750
hgdprs878853750
ensemblrs878853750
gopubmedrs878853750
geneviewrs878853750
scholarrs878853750
googlers878853750
pharmgkbrs878853750
gwascentralrs878853750
openSNPrs878853750
23andMers878853750
23andMe allrs878853750
SNP Nexus

SNPshotrs878853750
SNPdbers878853750
MSV3drs878853750
GWAS Ctlgrs878853750
Max Magnitude0
ClinVar
Risk rs878853750(;)
Alt rs878853750(;)
Reference rs878853750(A;A)
Significance Pathogenic
Disease Aortic valve disease 2
Variation info
Gene TBX5
CLNDBN Aortic valve disease 2
Reversed 1
HGVS NC_000012.11:g.114803994delT
CLNSRC
CLNACC RCV000227368.1,