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rs80338911

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338911(A;A)
Make rs80338911(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position50828684
GeneTFAP2B
is asnp
is mentioned by
dbSNPrs80338911
ebirs80338911
HLIrs80338911
Exacrs80338911
Varsomers80338911
Maprs80338911
PheGenIrs80338911
hapmaprs80338911
1000 genomesrs80338911
hgdprs80338911
ensemblrs80338911
gopubmedrs80338911
geneviewrs80338911
scholarrs80338911
googlers80338911
pharmgkbrs80338911
gwascentralrs80338911
openSNPrs80338911
23andMers80338911
23andMe allrs80338911
SNP Nexus

SNPshotrs80338911
SNPdbers80338911
MSV3drs80338911
GWAS Ctlgrs80338911
Max Magnitude0
ClinVar
Risk rs80338911(A;A)
Alt rs80338911(A;A)
Reference rs80338911(G;G)
Significance Pathogenic
Disease Char syndrome Patent ductus arteriosus 2
Variation info
Gene TFAP2B
CLNDBN Char syndrome Patent ductus arteriosus 2
Reversed 0
HGVS NC_000006.11:g.50796397G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000020531.3, RCV000235013.1,


[PMID 15684060OA-icon.png] Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.