rs121907931

Orientation

minus

Stabilized

minus

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

Make rs121907931(C;T)

Make rs121907931(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

49913480

Gene

ALG12

is a	snp
is	mentioned by
dbSNP	rs121907931
dbSNP (classic)	rs121907931
ClinGen	rs121907931
ebi	rs121907931
HLI	rs121907931
Exac	rs121907931
Gnomad	rs121907931
Varsome	rs121907931
LitVar	rs121907931
Map	rs121907931
PheGenI	rs121907931
Biobank	rs121907931
1000 genomes	rs121907931
hgdp	rs121907931
ensembl	rs121907931
geneview	rs121907931
scholar	rs121907931
google	rs121907931
pharmgkb	rs121907931
gwascentral	rs121907931
openSNP	rs121907931
23andMe	rs121907931
SNPshot	rs121907931
SNPdbe	rs121907931
MSV3d	rs121907931
GWAS Ctlg	rs121907931

Max Magnitude

0

OMIM	607144
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121907931(T;T)
Alt	rs121907931(T;T)
Reference	Rs121907931(C;C)
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.50307128G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003603.4,