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rs1054486

From SNPedia

Orientationminus
Stabilizedminus
Make rs1054486(C;C)
Make rs1054486(C;G)
Make rs1054486(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position12663394
GeneMAN2B1
is asnp
is mentioned by
dbSNPrs1054486
dbSNP (old)rs1054486
ClinGenrs1054486
ebirs1054486
HLIrs1054486
Exacrs1054486
Gnomadrs1054486
Varsomers1054486
Maprs1054486
PheGenIrs1054486
Biobankrs1054486
1000 genomesrs1054486
hgdprs1054486
ensemblrs1054486
gopubmedrs1054486
geneviewrs1054486
scholarrs1054486
googlers1054486
pharmgkbrs1054486
gwascentralrs1054486
openSNPrs1054486
23andMers1054486
23andMe allrs1054486
SNPshotrs1054486
SNPdbers1054486
MSV3drs1054486
GWAS Ctlgrs1054486
GMAF0.2305
Max Magnitude
? (C;C) (C;G) (G;G) 28



ClinVar
Risk rs1054486(G;G)
Alt rs1054486(G;G)
Reference rs1054486(C;C)
Significance Other
Disease not specified Deficiency of alpha-mannosidase
Variation info
Gene MAN2B1
CLNDBN not specified Deficiency of alpha-mannosidase
Reversed 1
HGVS NC_000019.9:g.12774208G>C
CLNSRC UniProtKB (protein)
CLNACC RCV000079080.8, RCV000368270.1,