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rs28934600

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28934600(A;T)
Make rs28934600(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position12665756
GeneMAN2B1, WDR83
is asnp
is mentioned by
dbSNPrs28934600
ebirs28934600
HLIrs28934600
Exacrs28934600
Varsomers28934600
Maprs28934600
PheGenIrs28934600
hapmaprs28934600
1000 genomesrs28934600
hgdprs28934600
ensemblrs28934600
gopubmedrs28934600
geneviewrs28934600
scholarrs28934600
googlers28934600
pharmgkbrs28934600
gwascentralrs28934600
openSNPrs28934600
23andMers28934600
23andMe allrs28934600
SNP Nexus

SNPshotrs28934600
SNPdbers28934600
MSV3drs28934600
GWAS Ctlgrs28934600
Max Magnitude0
OMIM609458
Desc
Variant0001
Relatedalso


ClinVar
Risk rs28934600(T;T)
Alt rs28934600(T;T)
Reference rs28934600(A;A)
Significance Pathogenic
Disease Deficiency of alpha-mannosidase
Variation info
Gene WDR83 MAN2B1
CLNDBN Deficiency of alpha-mannosidase
Reversed 1
HGVS NC_000019.9:g.12776570T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001752.1,