rs121434387

Orientation

minus

Stabilized

minus

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

Make rs121434387(C;G)

Make rs121434387(G;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

69331067

Gene

COG8, PDF

is a	snp
is	mentioned by
dbSNP	rs121434387
dbSNP (classic)	rs121434387
ClinGen	rs121434387
ebi	rs121434387
HLI	rs121434387
Exac	rs121434387
Gnomad	rs121434387
Varsome	rs121434387
LitVar	rs121434387
Map	rs121434387
PheGenI	rs121434387
Biobank	rs121434387
1000 genomes	rs121434387
hgdp	rs121434387
ensembl	rs121434387
geneview	rs121434387
scholar	rs121434387
google	rs121434387
pharmgkb	rs121434387
gwascentral	rs121434387
openSNP	rs121434387
23andMe	rs121434387
SNPshot	rs121434387
SNPdbe	rs121434387
MSV3d	rs121434387
GWAS Ctlg	rs121434387

Max Magnitude

0

OMIM	606979
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434387(G;G) rs121434387(T;T)
Alt	rs121434387(G;G) rs121434387(T;T)
Reference	Rs121434387(C;C)
Significance	Pathogenic
Disease	Congenital disorder of glycosylation type 2H
Variation	info
Gene	COG8 PDF
CLNDBN	Congenital disorder of glycosylation type 2H
Reversed	1
HGVS	NC_000016.9:g.69364970G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003832.3,