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rs1057517166

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517166(A;A)
Make rs1057517166(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12650223
GeneMAN2B1
is asnp
is mentioned by
dbSNPrs1057517166
dbSNP (classic)rs1057517166
ClinGenrs1057517166
ebirs1057517166
HLIrs1057517166
Exacrs1057517166
Gnomadrs1057517166
Varsomers1057517166
LitVarrs1057517166
Maprs1057517166
PheGenIrs1057517166
Biobankrs1057517166
1000 genomesrs1057517166
hgdprs1057517166
ensemblrs1057517166
geneviewrs1057517166
scholarrs1057517166
googlers1057517166
pharmgkbrs1057517166
gwascentralrs1057517166
openSNPrs1057517166
23andMers1057517166
23andMe allrs1057517166
SNPshotrs1057517166
SNPdbers1057517166
MSV3drs1057517166
GWAS Ctlgrs1057517166
Max Magnitude0
ClinVar
Risk rs1057517166(A;A)
Alt rs1057517166(A;A)
Reference Rs1057517166(G;G)
Significance Probable-Pathogenic
Disease Deficiency of alpha-mannosidase
Variation info
Gene MAN2B1
CLNDBN Deficiency of alpha-mannosidase
Reversed 1
HGVS NC_000019.9:g.12761037C>T
CLNSRC
CLNACC RCV000410754.1,