rs104893963

Orientation

plus

Stabilized

plus

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

Make rs104893963(A;A)

Make rs104893963(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

121446908

Gene

GJA1

is a	snp
is	mentioned by
dbSNP	rs104893963
dbSNP (classic)	rs104893963
ClinGen	rs104893963
ebi	rs104893963
HLI	rs104893963
Exac	rs104893963
Gnomad	rs104893963
Varsome	rs104893963
LitVar	rs104893963
Map	rs104893963
PheGenI	rs104893963
Biobank	rs104893963
1000 genomes	rs104893963
hgdp	rs104893963
ensembl	rs104893963
geneview	rs104893963
scholar	rs104893963
google	rs104893963
pharmgkb	rs104893963
gwascentral	rs104893963
openSNP	rs104893963
23andMe	rs104893963
SNPshot	rs104893963
SNPdbe	rs104893963
MSV3d	rs104893963
GWAS Ctlg	rs104893963

Max Magnitude

0

OMIM	121014
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104893963(A;A)
Alt	rs104893963(A;A)
Reference	Rs104893963(G;G)
Significance	Pathogenic
Disease	Oculodentodigital dysplasia
Variation	info
Gene	GJA1
CLNDBN	Oculodentodigital dysplasia
Reversed	0
HGVS	NC_000006.11:g.121768054G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018505.29,