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rs80338915

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338915(A;A)
Make rs80338915(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position50838007
GeneTFAP2B
is asnp
is mentioned by
dbSNPrs80338915
ebirs80338915
HLIrs80338915
Exacrs80338915
Varsomers80338915
Maprs80338915
PheGenIrs80338915
hapmaprs80338915
1000 genomesrs80338915
hgdprs80338915
ensemblrs80338915
gopubmedrs80338915
geneviewrs80338915
scholarrs80338915
googlers80338915
pharmgkbrs80338915
gwascentralrs80338915
openSNPrs80338915
23andMers80338915
23andMe allrs80338915
SNP Nexus

SNPshotrs80338915
SNPdbers80338915
MSV3drs80338915
GWAS Ctlgrs80338915
Max Magnitude0
OMIM601601
Desc
Variant0005
Relatedalso
ClinVar
Risk rs80338915(A;A)
Alt rs80338915(A;A)
Reference rs80338915(G;G)
Significance Pathogenic
Disease Char syndrome
Variation info
Gene TFAP2B
CLNDBN Char syndrome
Reversed 0
HGVS NC_000006.11:g.50805720G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008509.3,


[PMID 11505339OA-icon.png] Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation.