rs387907202

Orientation

minus

Stabilized

minus

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

Make rs387907202(G;T)

Make rs387907202(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

70512280

Gene

COG4

is a	snp
is	mentioned by
dbSNP	rs387907202
dbSNP (classic)	rs387907202
ClinGen	rs387907202
ebi	rs387907202
HLI	rs387907202
Exac	rs387907202
Gnomad	rs387907202
Varsome	rs387907202
LitVar	rs387907202
Map	rs387907202
PheGenI	rs387907202
Biobank	rs387907202
1000 genomes	rs387907202
hgdp	rs387907202
ensembl	rs387907202
geneview	rs387907202
scholar	rs387907202
google	rs387907202
pharmgkb	rs387907202
gwascentral	rs387907202
openSNP	rs387907202
23andMe	rs387907202
SNPshot	rs387907202
SNPdbe	rs387907202
MSV3d	rs387907202
GWAS Ctlg	rs387907202

Max Magnitude

0

ClinVar
Risk	rs387907202(T;T)
Alt	rs387907202(T;T)
Reference	Rs387907202(G;G)
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.70546183C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000024608.4,