rs1057516289

Orientation

minus

Stabilized

minus

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

Make rs1057516289(-;-)

Make rs1057516289(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

12652440

Gene

MAN2B1

is a	snp
is	mentioned by
dbSNP	rs1057516289
dbSNP (classic)	rs1057516289
ClinGen	rs1057516289
ebi	rs1057516289
HLI	rs1057516289
Exac	rs1057516289
Gnomad	rs1057516289
Varsome	rs1057516289
LitVar	rs1057516289
Map	rs1057516289
PheGenI	rs1057516289
Biobank	rs1057516289
1000 genomes	rs1057516289
hgdp	rs1057516289
ensembl	rs1057516289
geneview	rs1057516289
scholar	rs1057516289
google	rs1057516289
pharmgkb	rs1057516289
gwascentral	rs1057516289
openSNP	rs1057516289
23andMe	rs1057516289
SNPshot	rs1057516289
SNPdbe	rs1057516289
MSV3d	rs1057516289
GWAS Ctlg	rs1057516289

Max Magnitude

0

ClinVar
Risk	rs1057516289(-;-)
Alt	rs1057516289(-;-)
Reference	Rs1057516289(T;T)
Significance	Probable-Pathogenic
Disease	Deficiency of alpha-mannosidase
Variation	info
Gene	MAN2B1
CLNDBN	Deficiency of alpha-mannosidase
Reversed	1
HGVS	NC_000019.9:g.12763254delA
CLNSRC
CLNACC	RCV000410846.1,