rs387907181

Orientation

plus

Stabilized

plus

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

Make rs387907181(A;C)

Make rs387907181(C;C)

Reference

GRCh38 38.1/141

Chromosome

13

Position

52024566

Gene	ALG11, UTP14C

is a	snp
is	mentioned by
dbSNP	rs387907181
dbSNP (classic)	rs387907181
ClinGen	rs387907181
ebi	rs387907181
HLI	rs387907181
Exac	rs387907181
Gnomad	rs387907181
Varsome	rs387907181
LitVar	rs387907181
Map	rs387907181
PheGenI	rs387907181
Biobank	rs387907181
1000 genomes	rs387907181
hgdp	rs387907181
ensembl	rs387907181
geneview	rs387907181
scholar	rs387907181
google	rs387907181
pharmgkb	rs387907181
gwascentral	rs387907181
openSNP	rs387907181
23andMe	rs387907181
SNPshot	rs387907181
SNPdbe	rs387907181
MSV3d	rs387907181
GWAS Ctlg	rs387907181

Max Magnitude

0

ClinVar
Risk	rs387907181(C;C)
Alt	rs387907181(C;C)
Reference	Rs387907181(A;A)
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.52598702A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024340.3,