rs267606844

Orientation

plus

Stabilized

plus

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

Make rs267606844(A;A)

Make rs267606844(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

121447074

Gene

GJA1

is a	snp
is	mentioned by
dbSNP	rs267606844
dbSNP (classic)	rs267606844
ClinGen	rs267606844
ebi	rs267606844
HLI	rs267606844
Exac	rs267606844
Gnomad	rs267606844
Varsome	rs267606844
LitVar	rs267606844
Map	rs267606844
PheGenI	rs267606844
Biobank	rs267606844
1000 genomes	rs267606844
hgdp	rs267606844
ensembl	rs267606844
geneview	rs267606844
scholar	rs267606844
google	rs267606844
pharmgkb	rs267606844
gwascentral	rs267606844
openSNP	rs267606844
23andMe	rs267606844
SNPshot	rs267606844
SNPdbe	rs267606844
MSV3d	rs267606844
GWAS Ctlg	rs267606844

Max Magnitude

0

ClinVar
Risk	rs267606844(A;A)
Alt	rs267606844(A;A)
Reference	Rs267606844(G;G)
Significance	Pathogenic
Disease	Oculodentodigital dysplasia
Variation	info
Gene	GJA1
CLNDBN	Oculodentodigital dysplasia, autosomal recessive
Reversed	0
HGVS	NC_000006.11:g.121768220G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018519.25,