rs267606740

Orientation

minus

Stabilized

minus

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

Make rs267606740(C;T)

Make rs267606740(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

70481397

Gene

COG4

is a	snp
is	mentioned by
dbSNP	rs267606740
dbSNP (classic)	rs267606740
ClinGen	rs267606740
ebi	rs267606740
HLI	rs267606740
Exac	rs267606740
Gnomad	rs267606740
Varsome	rs267606740
LitVar	rs267606740
Map	rs267606740
PheGenI	rs267606740
Biobank	rs267606740
1000 genomes	rs267606740
hgdp	rs267606740
ensembl	rs267606740
geneview	rs267606740
scholar	rs267606740
google	rs267606740
pharmgkb	rs267606740
gwascentral	rs267606740
openSNP	rs267606740
23andMe	rs267606740
SNPshot	rs267606740
SNPdbe	rs267606740
MSV3d	rs267606740
GWAS Ctlg	rs267606740

Max Magnitude

0

ClinVar
Risk	rs267606740(T;T)
Alt	rs267606740(T;T)
Reference	Rs267606740(C;C)
Significance	Pathogenic
Disease	Congenital disorder of glycosylation type 2J
Variation	info
Gene	COG4
CLNDBN	Congenital disorder of glycosylation type 2J
Reversed	1
HGVS	NC_000016.9:g.70515300G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003837.3,