rs1057516459

Orientation

minus

Stabilized

minus

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

Make rs1057516459(-;-)

Make rs1057516459(-;GCACCACAGC)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

12655741

Gene

MAN2B1

is a	snp
is	mentioned by
dbSNP	rs1057516459
dbSNP (classic)	rs1057516459
ClinGen	rs1057516459
ebi	rs1057516459
HLI	rs1057516459
Exac	rs1057516459
Gnomad	rs1057516459
Varsome	rs1057516459
LitVar	rs1057516459
Map	rs1057516459
PheGenI	rs1057516459
Biobank	rs1057516459
1000 genomes	rs1057516459
hgdp	rs1057516459
ensembl	rs1057516459
geneview	rs1057516459
scholar	rs1057516459
google	rs1057516459
pharmgkb	rs1057516459
gwascentral	rs1057516459
openSNP	rs1057516459
23andMe	rs1057516459
SNPshot	rs1057516459
SNPdbe	rs1057516459
MSV3d	rs1057516459
GWAS Ctlg	rs1057516459

Max Magnitude

0

ClinVar
Risk	rs1057516459(-;-)
Alt	rs1057516459(-;-)
Reference	Rs1057516459(GCACCACAGC;GCACCACAGC)
Significance	Probable-Pathogenic
Disease	Deficiency of alpha-mannosidase
Variation	info
Gene	MAN2B1
CLNDBN	Deficiency of alpha-mannosidase
Reversed	1
HGVS	NC_000019.9:g.12766555_12766564delGCTGTGGTGC
CLNSRC
CLNACC	RCV000409995.1,