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rs80338914

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338914(A;A)
Make rs80338914(A;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position50837977
GeneTFAP2B
is asnp
is mentioned by
dbSNPrs80338914
ebirs80338914
HLIrs80338914
Exacrs80338914
Varsomers80338914
Maprs80338914
PheGenIrs80338914
hapmaprs80338914
1000 genomesrs80338914
hgdprs80338914
ensemblrs80338914
gopubmedrs80338914
geneviewrs80338914
scholarrs80338914
googlers80338914
pharmgkbrs80338914
gwascentralrs80338914
openSNPrs80338914
23andMers80338914
23andMe allrs80338914
SNP Nexus

SNPshotrs80338914
SNPdbers80338914
MSV3drs80338914
GWAS Ctlgrs80338914
Max Magnitude0
OMIM601601
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80338914(A;A)
Alt rs80338914(A;A)
Reference rs80338914(C;C)
Significance Pathogenic
Disease Char syndrome
Variation info
Gene TFAP2B
CLNDBN Char syndrome
Reversed 0
HGVS NC_000006.11:g.50805690C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008505.3,


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