rs121912969

Orientation

plus

Stabilized

plus

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

Make rs121912969(C;C)

Make rs121912969(C;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

121446879

Gene

GJA1

is a	snp
is	mentioned by
dbSNP	rs121912969
dbSNP (classic)	rs121912969
ClinGen	rs121912969
ebi	rs121912969
HLI	rs121912969
Exac	rs121912969
Gnomad	rs121912969
Varsome	rs121912969
LitVar	rs121912969
Map	rs121912969
PheGenI	rs121912969
Biobank	rs121912969
1000 genomes	rs121912969
hgdp	rs121912969
ensembl	rs121912969
geneview	rs121912969
scholar	rs121912969
google	rs121912969
pharmgkb	rs121912969
gwascentral	rs121912969
openSNP	rs121912969
23andMe	rs121912969
SNPshot	rs121912969
SNPdbe	rs121912969
MSV3d	rs121912969
GWAS Ctlg	rs121912969

Max Magnitude

0

OMIM	121014
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121912969(C;C)
Alt	rs121912969(C;C)
Reference	Rs121912969(T;T)
Significance	Pathogenic
Disease	Oculodentodigital dysplasia
Variation	info
Gene	GJA1
CLNDBN	Oculodentodigital dysplasia
Reversed	0
HGVS	NC_000006.11:g.121768025T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018516.29,