Have questions? Visit https://www.reddit.com/r/SNPedia

rs80338917

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0.1 Normal, no Char Syndrome mutation here.
(C;T) 6 Char Syndrome.
(T;T) 6 Char Syndrome.
ReferenceGRCh38 38.1/141
Chromosome6
Position50838051
GeneTFAP2B
is asnp
is mentioned by
dbSNPrs80338917
ebirs80338917
HLIrs80338917
Exacrs80338917
Varsomers80338917
Maprs80338917
PheGenIrs80338917
hapmaprs80338917
1000 genomesrs80338917
hgdprs80338917
ensemblrs80338917
gopubmedrs80338917
geneviewrs80338917
scholarrs80338917
googlers80338917
pharmgkbrs80338917
gwascentralrs80338917
openSNPrs80338917
23andMers80338917
23andMe allrs80338917
SNP Nexus

SNPshotrs80338917
SNPdbers80338917
MSV3drs80338917
GWAS Ctlgrs80338917
Max Magnitude6
OMIM601601
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80338917(T;T)
Alt rs80338917(T;T)
Reference rs80338917(C;C)
Significance Pathogenic
Disease Char syndrome
Variation info
Gene TFAP2B
CLNDBN Char syndrome
Reversed 0
HGVS NC_000006.11:g.50805764C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008506.3,


[PMID 10802654] Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.