rs80338678

Orientation

minus

Stabilized

minus

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

Make rs80338678(A;G)

Make rs80338678(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

12652462

Gene

MAN2B1

is a	snp
is	mentioned by
dbSNP	rs80338678
dbSNP (classic)	rs80338678
ClinGen	rs80338678
ebi	rs80338678
HLI	rs80338678
Exac	rs80338678
Gnomad	rs80338678
Varsome	rs80338678
LitVar	rs80338678
Map	rs80338678
PheGenI	rs80338678
Biobank	rs80338678
1000 genomes	rs80338678
hgdp	rs80338678
ensembl	rs80338678
geneview	rs80338678
scholar	rs80338678
google	rs80338678
pharmgkb	rs80338678
gwascentral	rs80338678
openSNP	rs80338678
23andMe	rs80338678
SNPshot	rs80338678
SNPdbe	rs80338678
MSV3d	rs80338678
GWAS Ctlg	rs80338678

Max Magnitude

0

ClinVar
Risk	rs80338678(G;G)
Alt	rs80338678(G;G)
Reference	Rs80338678(A;A)
Significance	Pathogenic
Disease	Deficiency of alpha-mannosidase
Variation	info
Gene	MAN2B1
CLNDBN	Deficiency of alpha-mannosidase
Reversed	1
HGVS	NC_000019.9:g.12763276T>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020365.1,

[PMID 9915946] Spectrum of mutations in alpha-mannosidosis.