rs387906959

Orientation

plus

Stabilized

plus

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

Make rs387906959(G;T)

Make rs387906959(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

39723394

Gene

COG6

is a	snp
is	mentioned by
dbSNP	rs387906959
dbSNP (classic)	rs387906959
ClinGen	rs387906959
ebi	rs387906959
HLI	rs387906959
Exac	rs387906959
Gnomad	rs387906959
Varsome	rs387906959
LitVar	rs387906959
Map	rs387906959
PheGenI	rs387906959
Biobank	rs387906959
1000 genomes	rs387906959
hgdp	rs387906959
ensembl	rs387906959
geneview	rs387906959
scholar	rs387906959
google	rs387906959
pharmgkb	rs387906959
gwascentral	rs387906959
openSNP	rs387906959
23andMe	rs387906959
SNPshot	rs387906959
SNPdbe	rs387906959
MSV3d	rs387906959
GWAS Ctlg	rs387906959

Max Magnitude

0

ClinVar
Risk	rs387906959(C;C) rs387906959(T;T)
Alt	rs387906959(C;C) rs387906959(T;T)
Reference	Rs387906959(G;G)
Significance	Pathogenic
Disease	Congenital disorder of glycosylation type 2L
Variation	info
Gene	COG6
CLNDBN	Congenital disorder of glycosylation type 2L
Reversed	0
HGVS	NC_000013.10:g.40297531G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023603.4,