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rs1057516682

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516682(-;-)
Make rs1057516682(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12664976
GeneMAN2B1, WDR83
is asnp
is mentioned by
dbSNPrs1057516682
dbSNP (old)rs1057516682
ClinGenrs1057516682
ebirs1057516682
HLIrs1057516682
Exacrs1057516682
Gnomadrs1057516682
Varsomers1057516682
LitVarrs1057516682
Maprs1057516682
PheGenIrs1057516682
Biobankrs1057516682
1000 genomesrs1057516682
hgdprs1057516682
ensemblrs1057516682
gopubmedrs1057516682
geneviewrs1057516682
scholarrs1057516682
googlers1057516682
pharmgkbrs1057516682
gwascentralrs1057516682
openSNPrs1057516682
23andMers1057516682
23andMe allrs1057516682
SNPshotrs1057516682
SNPdbers1057516682
MSV3drs1057516682
GWAS Ctlgrs1057516682
Max Magnitude0
ClinVar
Risk rs1057516682(-;-)
Alt rs1057516682(-;-)
Reference Rs1057516682(A;A)
Significance Probable-Pathogenic
Disease Deficiency of alpha-mannosidase
Variation info
Gene WDR83 MAN2B1
CLNDBN Deficiency of alpha-mannosidase
Reversed 1
HGVS NC_000019.9:g.12775790delT
CLNSRC
CLNACC RCV000412446.1,