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rs28939675

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28939675(A;A)
Make rs28939675(A;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position19763273
GeneTBX1
is asnp
is mentioned by
dbSNPrs28939675
ebirs28939675
HLIrs28939675
Exacrs28939675
Varsomers28939675
Maprs28939675
PheGenIrs28939675
hapmaprs28939675
1000 genomesrs28939675
hgdprs28939675
ensemblrs28939675
gopubmedrs28939675
geneviewrs28939675
scholarrs28939675
googlers28939675
pharmgkbrs28939675
gwascentralrs28939675
openSNPrs28939675
23andMers28939675
23andMe allrs28939675
SNP Nexus

SNPshotrs28939675
SNPdbers28939675
MSV3drs28939675
GWAS Ctlgrs28939675
Max Magnitude0
OMIM602054
DescCONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME
Variant0001
Relatedalso


ClinVar
Risk rs28939675(A;A)
Alt rs28939675(A;A)
Reference rs28939675(T;T)
Significance Pathogenic
Disease Conotruncal anomaly face syndrome/velocardiofacial syndrome
Variation info
Gene TBX1
CLNDBN Conotruncal anomaly face syndrome/velocardiofacial syndrome
Reversed 0
HGVS NC_000022.10:g.19750796T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007999.3,



[PMID 16854283] [Single nucleotide polymorphism and haplotype in TBX1 gene of patients with conotruncal defects: analysis of 130 cases].