rs786204715

Orientation

minus

Stabilized

minus

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

Make rs786204715(A;A)

Make rs786204715(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

19

Position

12658428

Gene

MAN2B1

is a	snp
is	mentioned by
dbSNP	rs786204715
dbSNP (classic)	rs786204715
ClinGen	rs786204715
ebi	rs786204715
HLI	rs786204715
Exac	rs786204715
Gnomad	rs786204715
Varsome	rs786204715
LitVar	rs786204715
Map	rs786204715
PheGenI	rs786204715
Biobank	rs786204715
1000 genomes	rs786204715
hgdp	rs786204715
ensembl	rs786204715
geneview	rs786204715
scholar	rs786204715
google	rs786204715
pharmgkb	rs786204715
gwascentral	rs786204715
openSNP	rs786204715
23andMe	rs786204715
SNPshot	rs786204715
SNPdbe	rs786204715
MSV3d	rs786204715
GWAS Ctlg	rs786204715

Max Magnitude

0

ClinVar
Risk	rs786204715(A;A)
Alt	rs786204715(A;A)
Reference	Rs786204715(G;G)
Significance	Probable-Pathogenic
Disease	Deficiency of alpha-mannosidase
Variation	info
Gene	MAN2B1
CLNDBN	Deficiency of alpha-mannosidase
Reversed	1
HGVS	NC_000019.9:g.12769242C>T
CLNSRC
CLNACC	RCV000169531.1,