rs104893966

Orientation

plus

Stabilized

plus

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

Make rs104893966(A;C)

Make rs104893966(C;C)

Reference

GRCh38 38.1/141

Chromosome

6

Position

121447428

Gene

GJA1

is a	snp
is	mentioned by
dbSNP	rs104893966
dbSNP (classic)	rs104893966
ClinGen	rs104893966
ebi	rs104893966
HLI	rs104893966
Exac	rs104893966
Gnomad	rs104893966
Varsome	rs104893966
LitVar	rs104893966
Map	rs104893966
PheGenI	rs104893966
Biobank	rs104893966
1000 genomes	rs104893966
hgdp	rs104893966
ensembl	rs104893966
geneview	rs104893966
scholar	rs104893966
google	rs104893966
pharmgkb	rs104893966
gwascentral	rs104893966
openSNP	rs104893966
23andMe	rs104893966
SNPshot	rs104893966
SNPdbe	rs104893966
MSV3d	rs104893966
GWAS Ctlg	rs104893966

Max Magnitude

0

OMIM	121014
Desc
Variant	0013
Related	also

ClinVar
Risk	rs104893966(C;C)
Alt	rs104893966(C;C)
Reference	Rs104893966(A;A)
Significance	Pathogenic
Disease	Oculodentodigital dysplasia
Variation	info
Gene	GJA1
CLNDBN	Oculodentodigital dysplasia
Reversed	0
HGVS	NC_000006.11:g.121768574A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018515.29,