rs1057516864

Orientation

minus

Stabilized

minus

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

Make rs1057516864(-;C)

Make rs1057516864(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

12647460

Gene

MAN2B1

is a	snp
is	mentioned by
dbSNP	rs1057516864
dbSNP (classic)	rs1057516864
ClinGen	rs1057516864
ebi	rs1057516864
HLI	rs1057516864
Exac	rs1057516864
Gnomad	rs1057516864
Varsome	rs1057516864
LitVar	rs1057516864
Map	rs1057516864
PheGenI	rs1057516864
Biobank	rs1057516864
1000 genomes	rs1057516864
hgdp	rs1057516864
ensembl	rs1057516864
geneview	rs1057516864
scholar	rs1057516864
google	rs1057516864
pharmgkb	rs1057516864
gwascentral	rs1057516864
openSNP	rs1057516864
23andMe	rs1057516864
SNPshot	rs1057516864
SNPdbe	rs1057516864
MSV3d	rs1057516864
GWAS Ctlg	rs1057516864

Max Magnitude

0

ClinVar
Risk	rs1057516864(C;C)
Alt	rs1057516864(C;C)
Reference	Rs1057516864(-;-)
Significance	Probable-Pathogenic
Disease	Deficiency of alpha-mannosidase
Variation	info
Gene	MAN2B1
CLNDBN	Deficiency of alpha-mannosidase
Reversed	1
HGVS	NC_000019.9:g.12758275dupG
CLNSRC
CLNACC	RCV000409219.1,