rs1057516810

Orientation

minus

Stabilized

minus

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

Make rs1057516810(-;T)

Make rs1057516810(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

12666648

Gene	MAN2B1, WDR83

is a	snp
is	mentioned by
dbSNP	rs1057516810
dbSNP (classic)	rs1057516810
ClinGen	rs1057516810
ebi	rs1057516810
HLI	rs1057516810
Exac	rs1057516810
Gnomad	rs1057516810
Varsome	rs1057516810
LitVar	rs1057516810
Map	rs1057516810
PheGenI	rs1057516810
Biobank	rs1057516810
1000 genomes	rs1057516810
hgdp	rs1057516810
ensembl	rs1057516810
geneview	rs1057516810
scholar	rs1057516810
google	rs1057516810
pharmgkb	rs1057516810
gwascentral	rs1057516810
openSNP	rs1057516810
23andMe	rs1057516810
SNPshot	rs1057516810
SNPdbe	rs1057516810
MSV3d	rs1057516810
GWAS Ctlg	rs1057516810

Max Magnitude

0

ClinVar
Risk	rs1057516810(T;T)
Alt	rs1057516810(T;T)
Reference	Rs1057516810(-;-)
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.12777462_12777463insA
CLNSRC
CLNACC	RCV000410677.1,