Rs121434387

Orientation

minus

is a	snp
is	mentioned by
dbSNP	rs121434387
PheGenI	rs121434387
nextbio	rs121434387
hapmap	rs121434387
1000 genomes	rs121434387
hgdp	rs121434387
ensembl	rs121434387
gopubmed	rs121434387
geneview	rs121434387
scholar	rs121434387
google	rs121434387
pharmgkb	rs121434387
gwascentral	rs121434387
openSNP	rs121434387
23andMe	rs121434387
23andMe all	rs121434387
SNP Nexus
SNPshot	rs121434387
SNPdbe	rs121434387
MSV3d	rs121434387

Gene

COG8, PDF

Chromosome

16

Orientation

minus

Position

69364970

Reference

GRCh37.p2 37.2/134

Max Magnitude

0

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

Make rs121434387(C;G)

Make rs121434387(G;G)

OMIM	606979
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434387(G;G)
Normal	rs121434387(C;C)
Significance	5
Disease	CONGENITAL DISORDER OF GLYCOSYLATION
ClinVar	info
Gene	COG8
CLNDBN	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh
Reversed	1
CLNHGVS	NC_000016.9:g.69364970G>C
CLNSRC	OMIM Allelic Variant