rs1057516466

Orientation

plus

Stabilized

plus

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

Make rs1057516466(-;-)

Make rs1057516466(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

74890630

Gene

MPI

is a	snp
is	mentioned by
dbSNP	rs1057516466
dbSNP (classic)	rs1057516466
ClinGen	rs1057516466
ebi	rs1057516466
HLI	rs1057516466
Exac	rs1057516466
Gnomad	rs1057516466
Varsome	rs1057516466
LitVar	rs1057516466
Map	rs1057516466
PheGenI	rs1057516466
Biobank	rs1057516466
1000 genomes	rs1057516466
hgdp	rs1057516466
ensembl	rs1057516466
geneview	rs1057516466
scholar	rs1057516466
google	rs1057516466
pharmgkb	rs1057516466
gwascentral	rs1057516466
openSNP	rs1057516466
23andMe	rs1057516466
SNPshot	rs1057516466
SNPdbe	rs1057516466
MSV3d	rs1057516466
GWAS Ctlg	rs1057516466

Max Magnitude

0

ClinVar
Risk	rs1057516466(-;-)
Alt	rs1057516466(-;-)
Reference	Rs1057516466(C;C)
Significance	Probable-Pathogenic
Disease	Congenital disorder of glycosylation type 1B
Variation	info
Gene	MPI
CLNDBN	Congenital disorder of glycosylation type 1B
Reversed	0
HGVS	NC_000015.9:g.75182971delC
CLNSRC
CLNACC	RCV000411654.1,