rs1057516325

Orientation

minus

Stabilized

minus

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

Make rs1057516325(C;T)

Make rs1057516325(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

12665511

Gene	MAN2B1, WDR83

is a	snp
is	mentioned by
dbSNP	rs1057516325
dbSNP (classic)	rs1057516325
ClinGen	rs1057516325
ebi	rs1057516325
HLI	rs1057516325
Exac	rs1057516325
Gnomad	rs1057516325
Varsome	rs1057516325
LitVar	rs1057516325
Map	rs1057516325
PheGenI	rs1057516325
Biobank	rs1057516325
1000 genomes	rs1057516325
hgdp	rs1057516325
ensembl	rs1057516325
geneview	rs1057516325
scholar	rs1057516325
google	rs1057516325
pharmgkb	rs1057516325
gwascentral	rs1057516325
openSNP	rs1057516325
23andMe	rs1057516325
SNPshot	rs1057516325
SNPdbe	rs1057516325
MSV3d	rs1057516325
GWAS Ctlg	rs1057516325

Max Magnitude

0

ClinVar
Risk	rs1057516325(T;T)
Alt	rs1057516325(T;T)
Reference	Rs1057516325(C;C)
Significance	Probable-Pathogenic
Disease	Deficiency of alpha-mannosidase
Variation	info
Gene	WDR83 MAN2B1
CLNDBN	Deficiency of alpha-mannosidase
Reversed	1
HGVS	NC_000019.9:g.12776325G>A
CLNSRC
CLNACC	RCV000410290.1,