rs121907933

Orientation

minus

Stabilized

minus

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

Make rs121907933(A;A)

Make rs121907933(A;G)

Reference

GRCh38 38.1/141

Chromosome

22

Position

49910602

Gene

ALG12

is a	snp
is	mentioned by
dbSNP	rs121907933
dbSNP (classic)	rs121907933
ClinGen	rs121907933
ebi	rs121907933
HLI	rs121907933
Exac	rs121907933
Gnomad	rs121907933
Varsome	rs121907933
LitVar	rs121907933
Map	rs121907933
PheGenI	rs121907933
Biobank	rs121907933
1000 genomes	rs121907933
hgdp	rs121907933
ensembl	rs121907933
geneview	rs121907933
scholar	rs121907933
google	rs121907933
pharmgkb	rs121907933
gwascentral	rs121907933
openSNP	rs121907933
23andMe	rs121907933
SNPshot	rs121907933
SNPdbe	rs121907933
MSV3d	rs121907933
GWAS Ctlg	rs121907933

Max Magnitude

0

OMIM	607144
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121907933(A;A)
Alt	rs121907933(A;A)
Reference	Rs121907933(G;G)
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.50304250C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003605.4,