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rs1054487

From SNPedia

Orientationminus
Stabilizedminus
Make rs1054487(C;C)
Make rs1054487(C;T)
Make rs1054487(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position12661351
GeneMAN2B1
is asnp
is mentioned by
dbSNPrs1054487
dbSNP (old)rs1054487
ClinGenrs1054487
ebirs1054487
HLIrs1054487
Exacrs1054487
Gnomadrs1054487
Varsomers1054487
LitVarrs1054487
Maprs1054487
PheGenIrs1054487
Biobankrs1054487
1000 genomesrs1054487
hgdprs1054487
ensemblrs1054487
gopubmedrs1054487
geneviewrs1054487
scholarrs1054487
googlers1054487
pharmgkbrs1054487
gwascentralrs1054487
openSNPrs1054487
23andMers1054487
23andMe allrs1054487
SNPshotrs1054487
SNPdbers1054487
MSV3drs1054487
GWAS Ctlgrs1054487
GMAF0.3219
Max Magnitude
? (C;C) (C;T) (T;T) 28




ClinVar
Risk rs1054487(A;A) rs1054487(G;G) rs1054487(T;T)
Alt rs1054487(A;A) rs1054487(G;G) rs1054487(T;T)
Reference rs1054487(C;C)
Significance Other
Disease not specified Deficiency of alpha-mannosidase not provided
Variation info
Gene MAN2B1
CLNDBN not specified Deficiency of alpha-mannosidase not provided
Reversed 1
HGVS NC_000019.9:g.12772165G>A; NC_000019.9:g.12772165G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000079081.8, RCV000355741.1, RCV000224033.1,