rs387907183

Orientation

plus

Stabilized

plus

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

Make rs387907183(A;A)

Make rs387907183(A;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

52024922

Gene	ALG11, UTP14C

is a	snp
is	mentioned by
dbSNP	rs387907183
dbSNP (classic)	rs387907183
ClinGen	rs387907183
ebi	rs387907183
HLI	rs387907183
Exac	rs387907183
Gnomad	rs387907183
Varsome	rs387907183
LitVar	rs387907183
Map	rs387907183
PheGenI	rs387907183
Biobank	rs387907183
1000 genomes	rs387907183
hgdp	rs387907183
ensembl	rs387907183
geneview	rs387907183
scholar	rs387907183
google	rs387907183
pharmgkb	rs387907183
gwascentral	rs387907183
openSNP	rs387907183
23andMe	rs387907183
SNPshot	rs387907183
SNPdbe	rs387907183
MSV3d	rs387907183
GWAS Ctlg	rs387907183

Max Magnitude

0

ClinVar
Risk	rs387907183(A;A)
Alt	rs387907183(A;A)
Reference	Rs387907183(G;G)
Significance	Pathogenic
Disease	Congenital disorder of glycosylation type 1P
Variation	info
Gene	ALG11 UTP14C
CLNDBN	Congenital disorder of glycosylation type 1P
Reversed	0
HGVS	NC_000013.10:g.52599058G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024342.4,