rs1054487

Orientation

minus

Stabilized

minus

Make rs1054487(C;C)

Make rs1054487(C;T)

Make rs1054487(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

12661351

Gene

MAN2B1

is a	snp
is	mentioned by
dbSNP	rs1054487
dbSNP (classic)	rs1054487
ClinGen	rs1054487
ebi	rs1054487
HLI	rs1054487
Exac	rs1054487
Gnomad	rs1054487
Varsome	rs1054487
LitVar	rs1054487
Map	rs1054487
PheGenI	rs1054487
Biobank	rs1054487
1000 genomes	rs1054487
hgdp	rs1054487
ensembl	rs1054487
geneview	rs1054487
scholar	rs1054487
google	rs1054487
pharmgkb	rs1054487
gwascentral	rs1054487
openSNP	rs1054487
23andMe	rs1054487
SNPshot	rs1054487
SNPdbe	rs1054487
MSV3d	rs1054487
GWAS Ctlg	rs1054487

GMAF

0.3219

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

ClinVar
Risk	rs1054487(A;A) rs1054487(G;G) rs1054487(T;T)
Alt	rs1054487(A;A) rs1054487(G;G) rs1054487(T;T)
Reference	rs1054487(C;C)
Significance	Other
Disease	not specified Deficiency of alpha-mannosidase not provided
Variation	info
Gene	MAN2B1
CLNDBN	not specified Deficiency of alpha-mannosidase not provided
Reversed	1
HGVS	NC_000019.9:g.12772165G>A; NC_000019.9:g.12772165G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000079081.8, RCV000355741.1, RCV000224033.1,