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rs727503952

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727503952(-;-)
Make rs727503952(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position33024317
GeneGLB1
is asnp
is mentioned by
dbSNPrs727503952
ebirs727503952
HLIrs727503952
Exacrs727503952
Varsomers727503952
Maprs727503952
PheGenIrs727503952
hapmaprs727503952
1000 genomesrs727503952
hgdprs727503952
ensemblrs727503952
gopubmedrs727503952
geneviewrs727503952
scholarrs727503952
googlers727503952
pharmgkbrs727503952
gwascentralrs727503952
openSNPrs727503952
23andMers727503952
23andMe allrs727503952
SNP Nexus

SNPshotrs727503952
SNPdbers727503952
MSV3drs727503952
GWAS Ctlgrs727503952
Max Magnitude0
ClinVar
Risk rs727503952(;)
Alt rs727503952(;)
Reference rs727503952(A;A)
Significance Pathogenic
Disease not provided Mucopolysaccharidosis Gangliosidosis GM1 type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis
Variation info
Gene TMPPE GLB1
CLNDBN not provided Mucopolysaccharidosis, MPS-IV-B Gangliosidosis GM1 type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis
Reversed 1
HGVS NC_000003.11:g.33065809delT
CLNSRC HGMD
CLNACC RCV000153328.2, RCV000173999.1, RCV000174000.1, RCV000174001.1, RCV000174002.1,