rs121908293

Orientation

minus

Stabilized

minus

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

Make rs121908293(A;C)

Make rs121908293(C;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

78127393

Gene

ALG8

is a	snp
is	mentioned by
dbSNP	rs121908293
dbSNP (classic)	rs121908293
ClinGen	rs121908293
ebi	rs121908293
HLI	rs121908293
Exac	rs121908293
Gnomad	rs121908293
Varsome	rs121908293
LitVar	rs121908293
Map	rs121908293
PheGenI	rs121908293
Biobank	rs121908293
1000 genomes	rs121908293
hgdp	rs121908293
ensembl	rs121908293
geneview	rs121908293
scholar	rs121908293
google	rs121908293
pharmgkb	rs121908293
gwascentral	rs121908293
openSNP	rs121908293
23andMe	rs121908293
SNPshot	rs121908293
SNPdbe	rs121908293
MSV3d	rs121908293
GWAS Ctlg	rs121908293

Max Magnitude

0

OMIM	608103
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121908293(C;C) rs121908293(T;T)
Alt	rs121908293(C;C) rs121908293(T;T)
Reference	Rs121908293(A;A)
Significance	Pathogenic
Disease	Congenital disorder of glycosylation type 1H
Variation	info
Gene	ALG8
CLNDBN	Congenital disorder of glycosylation type 1H
Reversed	1
HGVS	NC_000011.9:g.77838439T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002670.3,