rs387907184

Orientation

plus

Stabilized

plus

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

Make rs387907184(A;C)

Make rs387907184(C;C)

Reference

GRCh38 38.1/141

Chromosome

13

Position

52024683

Gene	ALG11, UTP14C

is a	snp
is	mentioned by
dbSNP	rs387907184
dbSNP (classic)	rs387907184
ClinGen	rs387907184
ebi	rs387907184
HLI	rs387907184
Exac	rs387907184
Gnomad	rs387907184
Varsome	rs387907184
LitVar	rs387907184
Map	rs387907184
PheGenI	rs387907184
Biobank	rs387907184
1000 genomes	rs387907184
hgdp	rs387907184
ensembl	rs387907184
geneview	rs387907184
scholar	rs387907184
google	rs387907184
pharmgkb	rs387907184
gwascentral	rs387907184
openSNP	rs387907184
23andMe	rs387907184
SNPshot	rs387907184
SNPdbe	rs387907184
MSV3d	rs387907184
GWAS Ctlg	rs387907184

Max Magnitude

0

ClinVar
Risk	rs387907184(C;C)
Alt	rs387907184(C;C)
Reference	Rs387907184(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.52598819A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024343.3,