rs121908340

Orientation

plus

Stabilized

plus

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

Make rs121908340(C;G)

Make rs121908340(G;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

5075447

Gene

ALG1

is a	snp
is	mentioned by
dbSNP	rs121908340
dbSNP (classic)	rs121908340
ClinGen	rs121908340
ebi	rs121908340
HLI	rs121908340
Exac	rs121908340
Gnomad	rs121908340
Varsome	rs121908340
LitVar	rs121908340
Map	rs121908340
PheGenI	rs121908340
Biobank	rs121908340
1000 genomes	rs121908340
hgdp	rs121908340
ensembl	rs121908340
geneview	rs121908340
scholar	rs121908340
google	rs121908340
pharmgkb	rs121908340
gwascentral	rs121908340
openSNP	rs121908340
23andMe	rs121908340
SNPshot	rs121908340
SNPdbe	rs121908340
MSV3d	rs121908340
GWAS Ctlg	rs121908340

GMAF

0.0004591

Max Magnitude

0

OMIM	605907
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121908340(G;G)
Alt	rs121908340(G;G)
Reference	Rs121908340(C;C)
Significance	Pathogenic
Disease	Congenital disorder of glycosylation type 1K
Variation	info
Gene	ALG1
CLNDBN	Congenital disorder of glycosylation type 1K
Reversed	0
HGVS	NC_000016.9:g.5125448C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004991.5,