rs1057516927

Orientation

minus

Stabilized

minus

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

Make rs1057516927(G;T)

Make rs1057516927(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

12655837

Gene

MAN2B1

is a	snp
is	mentioned by
dbSNP	rs1057516927
dbSNP (classic)	rs1057516927
ClinGen	rs1057516927
ebi	rs1057516927
HLI	rs1057516927
Exac	rs1057516927
Gnomad	rs1057516927
Varsome	rs1057516927
LitVar	rs1057516927
Map	rs1057516927
PheGenI	rs1057516927
Biobank	rs1057516927
1000 genomes	rs1057516927
hgdp	rs1057516927
ensembl	rs1057516927
geneview	rs1057516927
scholar	rs1057516927
google	rs1057516927
pharmgkb	rs1057516927
gwascentral	rs1057516927
openSNP	rs1057516927
23andMe	rs1057516927
SNPshot	rs1057516927
SNPdbe	rs1057516927
MSV3d	rs1057516927
GWAS Ctlg	rs1057516927

Max Magnitude

0

ClinVar
Risk	rs1057516927(T;T)
Alt	rs1057516927(T;T)
Reference	Rs1057516927(G;G)
Significance	Probable-Pathogenic
Disease	Deficiency of alpha-mannosidase
Variation	info
Gene	MAN2B1
CLNDBN	Deficiency of alpha-mannosidase
Reversed	1
HGVS	NC_000019.9:g.12766651C>A
CLNSRC
CLNACC	RCV000409235.1,