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rs587776525

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587776525(-;-)
Make rs587776525(-;A)
Make rs587776525(A;A)
ReferenceGRCh38 38.1/142
Chromosome3
Position33097009
GeneGLB1, TMPPE
is asnp
is mentioned by
dbSNPrs587776525
ebirs587776525
HLIrs587776525
Exacrs587776525
Varsomers587776525
Maprs587776525
PheGenIrs587776525
hapmaprs587776525
1000 genomesrs587776525
hgdprs587776525
ensemblrs587776525
gopubmedrs587776525
geneviewrs587776525
scholarrs587776525
googlers587776525
pharmgkbrs587776525
gwascentralrs587776525
openSNPrs587776525
23andMers587776525
23andMe allrs587776525
SNP Nexus

SNPshotrs587776525
SNPdbers587776525
MSV3drs587776525
GWAS Ctlgrs587776525
Max Magnitude0
ClinVar
Risk rs587776525(A;A)
Alt rs587776525(A;A)
Reference rs587776525(;)
Significance Pathogenic
Disease Infantile GM1 gangliosidosis
Variation info
Gene TMPPE GLB1
CLNDBN Infantile GM1 gangliosidosis
Reversed 0
HGVS NC_000003.11:g.33138501dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000000985.2,