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rs1057516501

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516501(C;C)
Make rs1057516501(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12666541
GeneMAN2B1, WDR83
is asnp
is mentioned by
dbSNPrs1057516501
dbSNP (old)rs1057516501
ClinGenrs1057516501
ebirs1057516501
HLIrs1057516501
Exacrs1057516501
Gnomadrs1057516501
Varsomers1057516501
LitVarrs1057516501
Maprs1057516501
PheGenIrs1057516501
Biobankrs1057516501
1000 genomesrs1057516501
hgdprs1057516501
ensemblrs1057516501
gopubmedrs1057516501
geneviewrs1057516501
scholarrs1057516501
googlers1057516501
pharmgkbrs1057516501
gwascentralrs1057516501
openSNPrs1057516501
23andMers1057516501
23andMe allrs1057516501
SNPshotrs1057516501
SNPdbers1057516501
MSV3drs1057516501
GWAS Ctlgrs1057516501
Max Magnitude0
ClinVar
Risk rs1057516501(C;C)
Alt rs1057516501(C;C)
Reference Rs1057516501(T;T)
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.12777355A>G
CLNSRC
CLNACC RCV000409222.1,