rs764670582

Orientation

plus

Stabilized

plus

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

Make rs764670582(A;A)

Make rs764670582(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

6

Position

121447563

Gene

GJA1

is a	snp
is	mentioned by
dbSNP	rs764670582
dbSNP (classic)	rs764670582
ClinGen	rs764670582
ebi	rs764670582
HLI	rs764670582
Exac	rs764670582
Gnomad	rs764670582
Varsome	rs764670582
LitVar	rs764670582
Map	rs764670582
PheGenI	rs764670582
Biobank	rs764670582
1000 genomes	rs764670582
hgdp	rs764670582
ensembl	rs764670582
geneview	rs764670582
scholar	rs764670582
google	rs764670582
pharmgkb	rs764670582
gwascentral	rs764670582
openSNP	rs764670582
23andMe	rs764670582
SNPshot	rs764670582
SNPdbe	rs764670582
MSV3d	rs764670582
GWAS Ctlg	rs764670582

Max Magnitude

0

ClinVar
Risk	rs764670582(A;A)
Alt	rs764670582(A;A)
Reference	Rs764670582(G;G)
Significance	Pathogenic
Disease	Craniometaphyseal dysplasia
Variation	info
Gene	GJA1
CLNDBN	Craniometaphyseal dysplasia, autosomal recessive type
Reversed	0
HGVS	NC_000006.11:g.121768709G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000185622.2,