rs28942090

Orientation

minus

Stabilized

minus

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

Make rs28942090(G;G)

Make rs28942090(G;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

49910479

Gene

ALG12

is a	snp
is	mentioned by
dbSNP	rs28942090
dbSNP (classic)	rs28942090
ClinGen	rs28942090
ebi	rs28942090
HLI	rs28942090
Exac	rs28942090
Gnomad	rs28942090
Varsome	rs28942090
LitVar	rs28942090
Map	rs28942090
PheGenI	rs28942090
Biobank	rs28942090
1000 genomes	rs28942090
hgdp	rs28942090
ensembl	rs28942090
geneview	rs28942090
scholar	rs28942090
google	rs28942090
pharmgkb	rs28942090
gwascentral	rs28942090
openSNP	rs28942090
23andMe	rs28942090
SNPshot	rs28942090
SNPdbe	rs28942090
MSV3d	rs28942090
GWAS Ctlg	rs28942090

Max Magnitude

0

OMIM	607144
Desc	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig
Variant	0001
Related	also

ClinVar
Risk	rs28942090(G;G)
Alt	rs28942090(G;G)
Reference	Rs28942090(T;T)
Significance	Pathogenic
Disease	Congenital disorder of glycosylation type 1G
Variation	info
Gene	ALG12
CLNDBN	Congenital disorder of glycosylation type 1G
Reversed	1
HGVS	NC_000022.10:g.50304127A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003602.3,