rs387906815

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(T;T)	3	Likely miscall if from Ancestry data; otherwise, possible mutation

Make rs387906815(C;T)

Reference

GRCh38 38.1/141

Chromosome

18

Position

22171677

Gene

GATA6

is a	snp
is	mentioned by
dbSNP	rs387906815
dbSNP (classic)	rs387906815
ClinGen	rs387906815
ebi	rs387906815
HLI	rs387906815
Exac	rs387906815
Gnomad	rs387906815
Varsome	rs387906815
LitVar	rs387906815
Map	rs387906815
PheGenI	rs387906815
Biobank	rs387906815
1000 genomes	rs387906815
hgdp	rs387906815
ensembl	rs387906815
geneview	rs387906815
scholar	rs387906815
google	rs387906815
pharmgkb	rs387906815
gwascentral	rs387906815
openSNP	rs387906815
23andMe	rs387906815
SNPshot	rs387906815
SNPdbe	rs387906815
MSV3d	rs387906815
GWAS Ctlg	rs387906815

Max Magnitude

3

ClinVar
Risk	Rs387906815(T;T)
Alt	Rs387906815(T;T)
Reference	Rs387906815(C;C)
Significance	Pathogenic
Disease	Atrioventricular septal defect 5
Variation	info
Gene	GATA6
CLNDBN	Atrioventricular septal defect 5
Reversed	0
HGVS	NC_000018.9:g.19751638C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023130.3,