rs28939378

Orientation

plus

Stabilized

plus

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

Make rs28939378(C;T)

Make rs28939378(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

5078789

Gene

ALG1

is a	snp
is	mentioned by
dbSNP	rs28939378
dbSNP (classic)	rs28939378
ClinGen	rs28939378
ebi	rs28939378
HLI	rs28939378
Exac	rs28939378
Gnomad	rs28939378
Varsome	rs28939378
LitVar	rs28939378
Map	rs28939378
PheGenI	rs28939378
Biobank	rs28939378
1000 genomes	rs28939378
hgdp	rs28939378
ensembl	rs28939378
geneview	rs28939378
scholar	rs28939378
google	rs28939378
pharmgkb	rs28939378
gwascentral	rs28939378
openSNP	rs28939378
23andMe	rs28939378
SNPshot	rs28939378
SNPdbe	rs28939378
MSV3d	rs28939378
GWAS Ctlg	rs28939378

Max Magnitude

0

OMIM	605907
Desc	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik
Variant	0001
Related	also

ClinVar
Risk	rs28939378(T;T)
Alt	rs28939378(T;T)
Reference	Rs28939378(C;C)
Significance	Other
Disease	Congenital disorder of glycosylation type 1K not provided Inborn genetic diseases
Variation	info
Gene	ALG1
CLNDBN	Congenital disorder of glycosylation type 1K not provided Inborn genetic diseases
Reversed	0
HGVS	NC_000016.9:g.5128790C>T
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004989.7, RCV000081987.4, RCV000210565.1,