rs80338915

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs80338915(A;A)

Make rs80338915(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

50838007

Gene

TFAP2B

is a	snp
is	mentioned by
dbSNP	rs80338915
dbSNP (classic)	rs80338915
ClinGen	rs80338915
ebi	rs80338915
HLI	rs80338915
Exac	rs80338915
Gnomad	rs80338915
Varsome	rs80338915
LitVar	rs80338915
Map	rs80338915
PheGenI	rs80338915
Biobank	rs80338915
1000 genomes	rs80338915
hgdp	rs80338915
ensembl	rs80338915
geneview	rs80338915
scholar	rs80338915
google	rs80338915
pharmgkb	rs80338915
gwascentral	rs80338915
openSNP	rs80338915
23andMe	rs80338915
SNPshot	rs80338915
SNPdbe	rs80338915
MSV3d	rs80338915
GWAS Ctlg	rs80338915

Max Magnitude

0

OMIM	601601
Desc
Variant	0005
Related	also

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 UniProtKB (protein)
CLNACC	RCV000008509.3,

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