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rs80338910

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338910(C;G)
Make rs80338910(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position50823543
GeneTFAP2B
is asnp
is mentioned by
dbSNPrs80338910
ebirs80338910
HLIrs80338910
Exacrs80338910
Varsomers80338910
Maprs80338910
PheGenIrs80338910
hapmaprs80338910
1000 genomesrs80338910
hgdprs80338910
ensemblrs80338910
gopubmedrs80338910
geneviewrs80338910
scholarrs80338910
googlers80338910
pharmgkbrs80338910
gwascentralrs80338910
openSNPrs80338910
23andMers80338910
23andMe allrs80338910
SNP Nexus

SNPshotrs80338910
SNPdbers80338910
MSV3drs80338910
GWAS Ctlgrs80338910
Max Magnitude0
OMIM601601
Desc
Variant0006
Relatedalso
ClinVar
Risk rs80338910(G;G)
Alt rs80338910(G;G)
Reference rs80338910(C;C)
Significance Pathogenic
Disease Char syndrome
Variation info
Gene TFAP2B
CLNDBN Char syndrome
Reversed 0
HGVS NC_000006.11:g.50791256C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008510.3,


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