rs80338679

Orientation

minus

Stabilized

minus

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

Make rs80338679(A;A)

Make rs80338679(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

12650103

Gene

MAN2B1

is a	snp
is	mentioned by
dbSNP	rs80338679
dbSNP (classic)	rs80338679
ClinGen	rs80338679
ebi	rs80338679
HLI	rs80338679
Exac	rs80338679
Gnomad	rs80338679
Varsome	rs80338679
LitVar	rs80338679
Map	rs80338679
PheGenI	rs80338679
Biobank	rs80338679
1000 genomes	rs80338679
hgdp	rs80338679
ensembl	rs80338679
geneview	rs80338679
scholar	rs80338679
google	rs80338679
pharmgkb	rs80338679
gwascentral	rs80338679
openSNP	rs80338679
23andMe	rs80338679
SNPshot	rs80338679
SNPdbe	rs80338679
MSV3d	rs80338679
GWAS Ctlg	rs80338679

Max Magnitude

0

ClinVar
Risk	rs80338679(A;A)
Alt	rs80338679(A;A)
Reference	Rs80338679(G;G)
Significance	Pathogenic
Disease	Deficiency of alpha-mannosidase
Variation	info
Gene	MAN2B1
CLNDBN	Deficiency of alpha-mannosidase
Reversed	1
HGVS	NC_000019.9:g.12760917C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020366.1,

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