rs28931601

Orientation

plus

Stabilized

plus

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

Make rs28931601(A;A)

Make rs28931601(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

121447133

Gene

GJA1

is a	snp
is	mentioned by
dbSNP	rs28931601
dbSNP (classic)	rs28931601
ClinGen	rs28931601
ebi	rs28931601
HLI	rs28931601
Exac	rs28931601
Gnomad	rs28931601
Varsome	rs28931601
LitVar	rs28931601
Map	rs28931601
PheGenI	rs28931601
Biobank	rs28931601
1000 genomes	rs28931601
hgdp	rs28931601
ensembl	rs28931601
geneview	rs28931601
scholar	rs28931601
google	rs28931601
pharmgkb	rs28931601
gwascentral	rs28931601
openSNP	rs28931601
23andMe	rs28931601
SNPshot	rs28931601
SNPdbe	rs28931601
MSV3d	rs28931601
GWAS Ctlg	rs28931601

Max Magnitude

0

OMIM	121014
Desc	OCULODENTODIGITAL DYSPLASIA
Variant	0009
Related	also

ClinVar
Risk	rs28931601(A;A)
Alt	rs28931601(A;A)
Reference	Rs28931601(G;G)
Significance	Pathogenic
Disease	Oculodentodigital dysplasia
Variation	info
Gene	GJA1
CLNDBN	Oculodentodigital dysplasia
Reversed	0
HGVS	NC_000006.11:g.121768279G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018509.30,