rs1057517108

Orientation

minus

Stabilized

minus

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

Make rs1057517108(-;-)

Make rs1057517108(-;TAGGGGG)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

12663695

Gene

MAN2B1

is a	snp
is	mentioned by
dbSNP	rs1057517108
dbSNP (classic)	rs1057517108
ClinGen	rs1057517108
ebi	rs1057517108
HLI	rs1057517108
Exac	rs1057517108
Gnomad	rs1057517108
Varsome	rs1057517108
LitVar	rs1057517108
Map	rs1057517108
PheGenI	rs1057517108
Biobank	rs1057517108
1000 genomes	rs1057517108
hgdp	rs1057517108
ensembl	rs1057517108
geneview	rs1057517108
scholar	rs1057517108
google	rs1057517108
pharmgkb	rs1057517108
gwascentral	rs1057517108
openSNP	rs1057517108
23andMe	rs1057517108
SNPshot	rs1057517108
SNPdbe	rs1057517108
MSV3d	rs1057517108
GWAS Ctlg	rs1057517108

Max Magnitude

0

ClinVar
Risk	rs1057517108(-;-)
Alt	rs1057517108(-;-)
Reference	Rs1057517108(TAGGGGG;TAGGGGG)
Significance	Probable-Pathogenic
Disease	Deficiency of alpha-mannosidase
Variation	info
Gene	MAN2B1
CLNDBN	Deficiency of alpha-mannosidase
Reversed	1
HGVS	NC_000019.9:g.12774509_12774515delCCCCCTA
CLNSRC
CLNACC	RCV000409213.1,