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rs1057516459

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GCACCACAGC;GCACCACAGC) 0 common in clinvar
Make rs1057516459(-;-)
Make rs1057516459(-;GCACCACAGC)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12655741
GeneMAN2B1
is asnp
is mentioned by
dbSNPrs1057516459
dbSNP (classic)rs1057516459
ClinGenrs1057516459
ebirs1057516459
HLIrs1057516459
Exacrs1057516459
Gnomadrs1057516459
Varsomers1057516459
LitVarrs1057516459
Maprs1057516459
PheGenIrs1057516459
Biobankrs1057516459
1000 genomesrs1057516459
hgdprs1057516459
ensemblrs1057516459
geneviewrs1057516459
scholarrs1057516459
googlers1057516459
pharmgkbrs1057516459
gwascentralrs1057516459
openSNPrs1057516459
23andMers1057516459
23andMe allrs1057516459
SNPshotrs1057516459
SNPdbers1057516459
MSV3drs1057516459
GWAS Ctlgrs1057516459
Max Magnitude0
ClinVar
Risk rs1057516459(-;-)
Alt rs1057516459(-;-)
Reference Rs1057516459(GCACCACAGC;GCACCACAGC)
Significance Probable-Pathogenic
Disease Deficiency of alpha-mannosidase
Variation info
Gene MAN2B1
CLNDBN Deficiency of alpha-mannosidase
Reversed 1
HGVS NC_000019.9:g.12766555_12766564delGCTGTGGTGC
CLNSRC
CLNACC RCV000409995.1,