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rs80338916

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338916(C;C)
Make rs80338916(C;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position50837974
GeneTFAP2B
is asnp
is mentioned by
dbSNPrs80338916
ebirs80338916
HLIrs80338916
Exacrs80338916
Varsomers80338916
Maprs80338916
PheGenIrs80338916
hapmaprs80338916
1000 genomesrs80338916
hgdprs80338916
ensemblrs80338916
gopubmedrs80338916
geneviewrs80338916
scholarrs80338916
googlers80338916
pharmgkbrs80338916
gwascentralrs80338916
openSNPrs80338916
23andMers80338916
23andMe allrs80338916
SNP Nexus

SNPshotrs80338916
SNPdbers80338916
MSV3drs80338916
GWAS Ctlgrs80338916
Max Magnitude0
ClinVar
Risk rs80338916(C;C)
Alt rs80338916(C;C)
Reference rs80338916(G;G)
Significance Pathogenic
Disease Char syndrome
Variation info
Gene TFAP2B
CLNDBN Char syndrome
Reversed 0
HGVS NC_000006.11:g.50805687G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020533.2,


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