rs104893962

Orientation

plus

Stabilized

plus

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

Make rs104893962(C;C)

Make rs104893962(C;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

121446899

Gene

GJA1

is a	snp
is	mentioned by
dbSNP	rs104893962
dbSNP (classic)	rs104893962
ClinGen	rs104893962
ebi	rs104893962
HLI	rs104893962
Exac	rs104893962
Gnomad	rs104893962
Varsome	rs104893962
LitVar	rs104893962
Map	rs104893962
PheGenI	rs104893962
Biobank	rs104893962
1000 genomes	rs104893962
hgdp	rs104893962
ensembl	rs104893962
geneview	rs104893962
scholar	rs104893962
google	rs104893962
pharmgkb	rs104893962
gwascentral	rs104893962
openSNP	rs104893962
23andMe	rs104893962
SNPshot	rs104893962
SNPdbe	rs104893962
MSV3d	rs104893962
GWAS Ctlg	rs104893962

Max Magnitude

0

OMIM	121014
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104893962(C;C)
Alt	rs104893962(C;C)
Reference	Rs104893962(T;T)
Significance	Pathogenic
Disease	Oculodentodigital dysplasia
Variation	info
Gene	GJA1
CLNDBN	Oculodentodigital dysplasia
Reversed	0
HGVS	NC_000006.11:g.121768045T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018504.32,