rs104893965

Orientation

plus

Stabilized

plus

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

Make rs104893965(A;A)

Make rs104893965(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

121447974

Gene

GJA1

is a	snp
is	mentioned by
dbSNP	rs104893965
dbSNP (classic)	rs104893965
ClinGen	rs104893965
ebi	rs104893965
HLI	rs104893965
Exac	rs104893965
Gnomad	rs104893965
Varsome	rs104893965
LitVar	rs104893965
Map	rs104893965
PheGenI	rs104893965
Biobank	rs104893965
1000 genomes	rs104893965
hgdp	rs104893965
ensembl	rs104893965
geneview	rs104893965
scholar	rs104893965
google	rs104893965
pharmgkb	rs104893965
gwascentral	rs104893965
openSNP	rs104893965
23andMe	rs104893965
SNPshot	rs104893965
SNPdbe	rs104893965
MSV3d	rs104893965
GWAS Ctlg	rs104893965

Max Magnitude

0

OMIM	121014
Desc
Variant	0012
Related	also

ClinVar
Risk	rs104893965(A;A)
Alt	rs104893965(A;A)
Reference	Rs104893965(G;G)
Significance	Pathogenic
Disease	Hypoplastic left heart syndrome Atrioventricular septal defect and common atrioventricular junction
Variation	info
Gene	GJA1
CLNDBN	Hypoplastic left heart syndrome Atrioventricular septal defect and common atrioventricular junction
Reversed	0
HGVS	NC_000006.11:g.121769120G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018513.30, RCV000018514.25,