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rs1057516325

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516325(C;T)
Make rs1057516325(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12665511
GeneMAN2B1, WDR83
is asnp
is mentioned by
dbSNPrs1057516325
dbSNP (old)rs1057516325
ClinGenrs1057516325
ebirs1057516325
HLIrs1057516325
Exacrs1057516325
Gnomadrs1057516325
Varsomers1057516325
Maprs1057516325
PheGenIrs1057516325
Biobankrs1057516325
1000 genomesrs1057516325
hgdprs1057516325
ensemblrs1057516325
gopubmedrs1057516325
geneviewrs1057516325
scholarrs1057516325
googlers1057516325
pharmgkbrs1057516325
gwascentralrs1057516325
openSNPrs1057516325
23andMers1057516325
23andMe allrs1057516325
SNPshotrs1057516325
SNPdbers1057516325
MSV3drs1057516325
GWAS Ctlgrs1057516325
Max Magnitude0
ClinVar
Risk rs1057516325(T;T)
Alt rs1057516325(T;T)
Reference Rs1057516325(C;C)
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.12776325G>A
CLNSRC
CLNACC RCV000410290.1,