rs1057516573

Orientation

plus

Stabilized

plus

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

Make rs1057516573(A;A)

Make rs1057516573(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

74891378

Gene

MPI

is a	snp
is	mentioned by
dbSNP	rs1057516573
dbSNP (classic)	rs1057516573
ClinGen	rs1057516573
ebi	rs1057516573
HLI	rs1057516573
Exac	rs1057516573
Gnomad	rs1057516573
Varsome	rs1057516573
LitVar	rs1057516573
Map	rs1057516573
PheGenI	rs1057516573
Biobank	rs1057516573
1000 genomes	rs1057516573
hgdp	rs1057516573
ensembl	rs1057516573
geneview	rs1057516573
scholar	rs1057516573
google	rs1057516573
pharmgkb	rs1057516573
gwascentral	rs1057516573
openSNP	rs1057516573
23andMe	rs1057516573
SNPshot	rs1057516573
SNPdbe	rs1057516573
MSV3d	rs1057516573
GWAS Ctlg	rs1057516573

Max Magnitude

0

ClinVar
Risk	rs1057516573(A;A)
Alt	rs1057516573(A;A)
Reference	Rs1057516573(G;G)
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.75183719G>A
CLNSRC
CLNACC	RCV000409448.1,