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rs1057516897

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516897(-;-)
Make rs1057516897(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12647234
GeneMAN2B1
is asnp
is mentioned by
dbSNPrs1057516897
dbSNP (old)rs1057516897
ClinGenrs1057516897
ebirs1057516897
HLIrs1057516897
Exacrs1057516897
Gnomadrs1057516897
Varsomers1057516897
LitVarrs1057516897
Maprs1057516897
PheGenIrs1057516897
Biobankrs1057516897
1000 genomesrs1057516897
hgdprs1057516897
ensemblrs1057516897
gopubmedrs1057516897
geneviewrs1057516897
scholarrs1057516897
googlers1057516897
pharmgkbrs1057516897
gwascentralrs1057516897
openSNPrs1057516897
23andMers1057516897
23andMe allrs1057516897
SNPshotrs1057516897
SNPdbers1057516897
MSV3drs1057516897
GWAS Ctlgrs1057516897
Max Magnitude0
ClinVar
Risk rs1057516897(-;-)
Alt rs1057516897(-;-)
Reference Rs1057516897(A;A)
Significance Probable-Pathogenic
Disease Deficiency of alpha-mannosidase
Variation info
Gene MAN2B1
CLNDBN Deficiency of alpha-mannosidase
Reversed 1
HGVS NC_000019.9:g.12758048delT
CLNSRC
CLNACC RCV000412417.1,