Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057516810

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516810(-;T)
Make rs1057516810(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12666648
GeneMAN2B1, WDR83
is asnp
is mentioned by
dbSNPrs1057516810
dbSNP (old)rs1057516810
ClinGenrs1057516810
ebirs1057516810
HLIrs1057516810
Exacrs1057516810
Gnomadrs1057516810
Varsomers1057516810
LitVarrs1057516810
Maprs1057516810
PheGenIrs1057516810
Biobankrs1057516810
1000 genomesrs1057516810
hgdprs1057516810
ensemblrs1057516810
gopubmedrs1057516810
geneviewrs1057516810
scholarrs1057516810
googlers1057516810
pharmgkbrs1057516810
gwascentralrs1057516810
openSNPrs1057516810
23andMers1057516810
23andMe allrs1057516810
SNPshotrs1057516810
SNPdbers1057516810
MSV3drs1057516810
GWAS Ctlgrs1057516810
Max Magnitude0
ClinVar
Risk rs1057516810(T;T)
Alt rs1057516810(T;T)
Reference Rs1057516810(-;-)
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.12777462_12777463insA
CLNSRC
CLNACC RCV000410677.1,