rs2227885

Orientation

plus

Stabilized

plus

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

Make rs2227885(A;A)

Make rs2227885(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

121447932

Gene

GJA1

is a	snp
is	mentioned by
dbSNP	rs2227885
dbSNP (classic)	rs2227885
ClinGen	rs2227885
ebi	rs2227885
HLI	rs2227885
Exac	rs2227885
Gnomad	rs2227885
Varsome	rs2227885
LitVar	rs2227885
Map	rs2227885
PheGenI	rs2227885
Biobank	rs2227885
1000 genomes	rs2227885
hgdp	rs2227885
ensembl	rs2227885
geneview	rs2227885
scholar	rs2227885
google	rs2227885
pharmgkb	rs2227885
gwascentral	rs2227885
openSNP	rs2227885
23andMe	rs2227885
SNPshot	rs2227885
SNPdbe	rs2227885
MSV3d	rs2227885
GWAS Ctlg	rs2227885

Max Magnitude

0

OMIM	121014
Desc
Variant	0011
Related	also

ClinVar
Risk	rs2227885(A;A)
Alt	rs2227885(A;A)
Reference	Rs2227885(G;G)
Significance	Pathogenic
Disease	Hypoplastic left heart syndrome Atrioventricular septal defect and common atrioventricular junction not specified
Variation	info
Gene	GJA1
CLNDBN	Hypoplastic left heart syndrome Atrioventricular septal defect and common atrioventricular junction not specified
Reversed	0
HGVS	NC_000006.11:g.121769078G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018511.28, RCV000018512.28, RCV000444307.1,