rs80338914

Orientation

plus

Stabilized

plus

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

Make rs80338914(A;A)

Make rs80338914(A;C)

Reference

GRCh38 38.1/141

Chromosome

6

Position

50837977

Gene

TFAP2B

is a	snp
is	mentioned by
dbSNP	rs80338914
dbSNP (classic)	rs80338914
ClinGen	rs80338914
ebi	rs80338914
HLI	rs80338914
Exac	rs80338914
Gnomad	rs80338914
Varsome	rs80338914
LitVar	rs80338914
Map	rs80338914
PheGenI	rs80338914
Biobank	rs80338914
1000 genomes	rs80338914
hgdp	rs80338914
ensembl	rs80338914
geneview	rs80338914
scholar	rs80338914
google	rs80338914
pharmgkb	rs80338914
gwascentral	rs80338914
openSNP	rs80338914
23andMe	rs80338914
SNPshot	rs80338914
SNPdbe	rs80338914
MSV3d	rs80338914
GWAS Ctlg	rs80338914

Max Magnitude

0

OMIM	601601
Desc
Variant	0001
Related	also

ClinVar
Risk	rs80338914(A;A)
Alt	rs80338914(A;A)
Reference	Rs80338914(C;C)
Significance	Pathogenic
Disease	Char syndrome
Variation	info
Gene	TFAP2B
CLNDBN	Char syndrome
Reversed	0
HGVS	NC_000006.11:g.50805690C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008505.3,

[PMID 10802654] Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.