rs104893964

Orientation

plus

Stabilized

plus

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

Make rs104893964(A;A)

Make rs104893964(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

121446912

Gene

GJA1

is a	snp
is	mentioned by
dbSNP	rs104893964
dbSNP (classic)	rs104893964
ClinGen	rs104893964
ebi	rs104893964
HLI	rs104893964
Exac	rs104893964
Gnomad	rs104893964
Varsome	rs104893964
LitVar	rs104893964
Map	rs104893964
PheGenI	rs104893964
Biobank	rs104893964
1000 genomes	rs104893964
hgdp	rs104893964
ensembl	rs104893964
geneview	rs104893964
scholar	rs104893964
google	rs104893964
pharmgkb	rs104893964
gwascentral	rs104893964
openSNP	rs104893964
23andMe	rs104893964
SNPshot	rs104893964
SNPdbe	rs104893964
MSV3d	rs104893964
GWAS Ctlg	rs104893964

Max Magnitude

0

OMIM	121014
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104893964(A;A)
Alt	rs104893964(A;A)
Reference	Rs104893964(G;G)
Significance	Pathogenic
Disease	Oculodentodigital dysplasia
Variation	info
Gene	GJA1
CLNDBN	Oculodentodigital dysplasia
Reversed	0
HGVS	NC_000006.11:g.121768058G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018506.29,