rs121912970

Orientation

plus

Stabilized

plus

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

Make rs121912970(C;T)

Make rs121912970(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

121446944

Gene

GJA1

is a	snp
is	mentioned by
dbSNP	rs121912970
dbSNP (classic)	rs121912970
ClinGen	rs121912970
ebi	rs121912970
HLI	rs121912970
Exac	rs121912970
Gnomad	rs121912970
Varsome	rs121912970
LitVar	rs121912970
Map	rs121912970
PheGenI	rs121912970
Biobank	rs121912970
1000 genomes	rs121912970
hgdp	rs121912970
ensembl	rs121912970
geneview	rs121912970
scholar	rs121912970
google	rs121912970
pharmgkb	rs121912970
gwascentral	rs121912970
openSNP	rs121912970
23andMe	rs121912970
SNPshot	rs121912970
SNPdbe	rs121912970
MSV3d	rs121912970
GWAS Ctlg	rs121912970

Max Magnitude

0

OMIM	121014
Desc
Variant	0016
Related	also

ClinVar
Risk	rs121912970(T;T)
Alt	rs121912970(T;T)
Reference	Rs121912970(C;C)
Significance	Pathogenic
Disease	Oculodentodigital dysplasia
Variation	info
Gene	GJA1
CLNDBN	Oculodentodigital dysplasia, autosomal recessive
Reversed	0
HGVS	NC_000006.11:g.121768090C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018518.28,