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rs1057516927

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516927(G;T)
Make rs1057516927(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12655837
GeneMAN2B1
is asnp
is mentioned by
dbSNPrs1057516927
dbSNP (old)rs1057516927
ClinGenrs1057516927
ebirs1057516927
HLIrs1057516927
Exacrs1057516927
Gnomadrs1057516927
Varsomers1057516927
Maprs1057516927
PheGenIrs1057516927
Biobankrs1057516927
1000 genomesrs1057516927
hgdprs1057516927
ensemblrs1057516927
gopubmedrs1057516927
geneviewrs1057516927
scholarrs1057516927
googlers1057516927
pharmgkbrs1057516927
gwascentralrs1057516927
openSNPrs1057516927
23andMers1057516927
23andMe allrs1057516927
SNPshotrs1057516927
SNPdbers1057516927
MSV3drs1057516927
GWAS Ctlgrs1057516927
Max Magnitude0
ClinVar
Risk rs1057516927(T;T)
Alt rs1057516927(T;T)
Reference Rs1057516927(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.12766651C>A
CLNSRC
CLNACC RCV000409235.1,