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rs1057516972

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516972(-;G)
Make rs1057516972(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12666608
GeneMAN2B1, WDR83
is asnp
is mentioned by
dbSNPrs1057516972
dbSNP (old)rs1057516972
ClinGenrs1057516972
ebirs1057516972
HLIrs1057516972
Exacrs1057516972
Gnomadrs1057516972
Varsomers1057516972
Maprs1057516972
PheGenIrs1057516972
Biobankrs1057516972
1000 genomesrs1057516972
hgdprs1057516972
ensemblrs1057516972
gopubmedrs1057516972
geneviewrs1057516972
scholarrs1057516972
googlers1057516972
pharmgkbrs1057516972
gwascentralrs1057516972
openSNPrs1057516972
23andMers1057516972
23andMe allrs1057516972
SNPshotrs1057516972
SNPdbers1057516972
MSV3drs1057516972
GWAS Ctlgrs1057516972
Max Magnitude0
ClinVar
Risk rs1057516972(G;G)
Alt rs1057516972(G;G)
Reference Rs1057516972(-;-)
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.12777423dupC
CLNSRC
CLNACC RCV000409925.1,