rs397518464

Orientation

plus

Stabilized

plus

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

Make rs397518464(A;G)

Make rs397518464(G;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

121447464

Gene

GJA1

is a	snp
is	mentioned by
dbSNP	rs397518464
dbSNP (classic)	rs397518464
ClinGen	rs397518464
ebi	rs397518464
HLI	rs397518464
Exac	rs397518464
Gnomad	rs397518464
Varsome	rs397518464
LitVar	rs397518464
Map	rs397518464
PheGenI	rs397518464
Biobank	rs397518464
1000 genomes	rs397518464
hgdp	rs397518464
ensembl	rs397518464
geneview	rs397518464
scholar	rs397518464
google	rs397518464
pharmgkb	rs397518464
gwascentral	rs397518464
openSNP	rs397518464
23andMe	rs397518464
SNPshot	rs397518464
SNPdbe	rs397518464
MSV3d	rs397518464
GWAS Ctlg	rs397518464

Max Magnitude

0

ClinVar
Risk	rs397518464(G;G)
Alt	rs397518464(G;G)
Reference	Rs397518464(A;A)
Significance	Pathogenic
Disease	Oculodentodigital dysplasia
Variation	info
Gene	GJA1
CLNDBN	Oculodentodigital dysplasia
Reversed	0
HGVS	NC_000006.11:g.121768610A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000074385.29,