rs1054486

Orientation

minus

Stabilized

minus

Make rs1054486(C;C)

Make rs1054486(C;G)

Make rs1054486(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

12663394

Gene

MAN2B1

is a	snp
is	mentioned by
dbSNP	rs1054486
dbSNP (classic)	rs1054486
ClinGen	rs1054486
ebi	rs1054486
HLI	rs1054486
Exac	rs1054486
Gnomad	rs1054486
Varsome	rs1054486
LitVar	rs1054486
Map	rs1054486
PheGenI	rs1054486
Biobank	rs1054486
1000 genomes	rs1054486
hgdp	rs1054486
ensembl	rs1054486
geneview	rs1054486
scholar	rs1054486
google	rs1054486
pharmgkb	rs1054486
gwascentral	rs1054486
openSNP	rs1054486
23andMe	rs1054486
SNPshot	rs1054486
SNPdbe	rs1054486
MSV3d	rs1054486
GWAS Ctlg	rs1054486

GMAF

0.2305

Max Magnitude

0

?	(C;C) (C;G) (G;G)	28

ClinVar
Risk	rs1054486(G;G)
Alt	rs1054486(G;G)
Reference	rs1054486(C;C)
Significance	Other
Disease	not specified Deficiency of alpha-mannosidase
Variation	info
Gene	MAN2B1
CLNDBN	not specified Deficiency of alpha-mannosidase
Reversed	1
HGVS	NC_000019.9:g.12774208G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000079080.8, RCV000368270.1,