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rs587776526

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587776526(C;C)
Make rs587776526(C;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position33014312
GeneGLB1
is asnp
is mentioned by
dbSNPrs587776526
ebirs587776526
HLIrs587776526
Exacrs587776526
Varsomers587776526
Maprs587776526
PheGenIrs587776526
hapmaprs587776526
1000 genomesrs587776526
hgdprs587776526
ensemblrs587776526
gopubmedrs587776526
geneviewrs587776526
scholarrs587776526
googlers587776526
pharmgkbrs587776526
gwascentralrs587776526
openSNPrs587776526
23andMers587776526
23andMe allrs587776526
SNP Nexus

SNPshotrs587776526
SNPdbers587776526
MSV3drs587776526
GWAS Ctlgrs587776526
Max Magnitude0
ClinVar
Risk rs587776526(C;C)
Alt rs587776526(C;C)
Reference rs587776526(T;T)
Significance Pathogenic
Disease Gm1-gangliosidosis
Variation info
Gene TMPPE GLB1
CLNDBN Gm1-gangliosidosis, type I, with cardiac involvement
Reversed 0
HGVS NC_000003.11:g.33055804T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000996.3,