Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057516289

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516289(-;-)
Make rs1057516289(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12652440
GeneMAN2B1
is asnp
is mentioned by
dbSNPrs1057516289
dbSNP (old)rs1057516289
ClinGenrs1057516289
ebirs1057516289
HLIrs1057516289
Exacrs1057516289
Gnomadrs1057516289
Varsomers1057516289
Maprs1057516289
PheGenIrs1057516289
Biobankrs1057516289
1000 genomesrs1057516289
hgdprs1057516289
ensemblrs1057516289
gopubmedrs1057516289
geneviewrs1057516289
scholarrs1057516289
googlers1057516289
pharmgkbrs1057516289
gwascentralrs1057516289
openSNPrs1057516289
23andMers1057516289
23andMe allrs1057516289
SNPshotrs1057516289
SNPdbers1057516289
MSV3drs1057516289
GWAS Ctlgrs1057516289
Max Magnitude0
ClinVar
Risk rs1057516289(-;-)
Alt rs1057516289(-;-)
Reference Rs1057516289(T;T)
Significance Probable-Pathogenic
Disease Deficiency of alpha-mannosidase
Variation info
Gene MAN2B1
CLNDBN Deficiency of alpha-mannosidase
Reversed 1
HGVS NC_000019.9:g.12763254delA
CLNSRC
CLNACC RCV000410846.1,