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rs1133330

From SNPedia

Orientationminus
Stabilizedminus
Make rs1133330(A;A)
Make rs1133330(A;G)
Make rs1133330(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position12661276
GeneMAN2B1
is asnp
is mentioned by
dbSNPrs1133330
ebirs1133330
HLIrs1133330
Exacrs1133330
Varsomers1133330
Maprs1133330
PheGenIrs1133330
hapmaprs1133330
1000 genomesrs1133330
hgdprs1133330
ensemblrs1133330
gopubmedrs1133330
geneviewrs1133330
scholarrs1133330
googlers1133330
pharmgkbrs1133330
gwascentralrs1133330
openSNPrs1133330
23andMers1133330
23andMe allrs1133330
SNP Nexus

SNPshotrs1133330
SNPdbers1133330
MSV3drs1133330
GWAS Ctlgrs1133330
GMAF0.258
Max Magnitude
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene MAN2B1
allele T
frequency 0.375
sift TOLERATED
HuRef 1103691093374
Disease Association Defects in MAN2B1 are the cause of lysosomal alpha- mannosidosis (AM) (MIM:248500). AM is a lysosomal storage disease characterized by accumulation of unbranched oligosaccharide chains. This accumulation is expressed histologically as cytoplasmic vacuolation predominantly in the CNS and parenchymatuos organs. Depending on the clinical findings at the age of onset, a severe infantile (type I) and a mild juvenile (type II) form of alpha-mannosidosis are recognized. There is considerable variation in the clinical expression with mental retardation, recurrent infections, impaired hearing and Hurler- like skeletal changes being the most consistent abnormalities.



Neighborrs1054487
Distance75


GET Evidence
MAN2B1-R337Q
aa_change Arg337Gln
aa_change_short R337Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.373118
summary



ClinVar
Risk rs1133330(A;A)
Alt rs1133330(A;A)
Reference rs1133330(G;G)
Significance Other
Disease not specified
Variation info
Gene MAN2B1
CLNDBN not specified
Reversed 1
HGVS NC_000019.9:g.12772090C>T
CLNSRC ClinVar Emory University University of Chicago
CLNACC RCV000079070.7,