rs80338911

Orientation

plus

Stabilized

plus

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

Make rs80338911(A;A)

Make rs80338911(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

50828684

Gene

TFAP2B

is a	snp
is	mentioned by
dbSNP	rs80338911
dbSNP (classic)	rs80338911
ClinGen	rs80338911
ebi	rs80338911
HLI	rs80338911
Exac	rs80338911
Gnomad	rs80338911
Varsome	rs80338911
LitVar	rs80338911
Map	rs80338911
PheGenI	rs80338911
Biobank	rs80338911
1000 genomes	rs80338911
hgdp	rs80338911
ensembl	rs80338911
geneview	rs80338911
scholar	rs80338911
google	rs80338911
pharmgkb	rs80338911
gwascentral	rs80338911
openSNP	rs80338911
23andMe	rs80338911
SNPshot	rs80338911
SNPdbe	rs80338911
MSV3d	rs80338911
GWAS Ctlg	rs80338911

Max Magnitude

0

ClinVar
Risk	rs80338911(A;A)
Alt	rs80338911(A;A)
Reference	Rs80338911(G;G)
Significance	Pathogenic
Disease	Char syndrome Patent ductus arteriosus 2
Variation	info
Gene	TFAP2B
CLNDBN	Char syndrome Patent ductus arteriosus 2
Reversed	0
HGVS	NC_000006.11:g.50796397G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000020531.3, RCV000235013.2,

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