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rs587779404

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587779404(C;C)
Make rs587779404(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position33051791
GeneGLB1
is asnp
is mentioned by
dbSNPrs587779404
ebirs587779404
HLIrs587779404
Exacrs587779404
Varsomers587779404
Maprs587779404
PheGenIrs587779404
hapmaprs587779404
1000 genomesrs587779404
hgdprs587779404
ensemblrs587779404
gopubmedrs587779404
geneviewrs587779404
scholarrs587779404
googlers587779404
pharmgkbrs587779404
gwascentralrs587779404
openSNPrs587779404
23andMers587779404
23andMe allrs587779404
SNP Nexus

SNPshotrs587779404
SNPdbers587779404
MSV3drs587779404
GWAS Ctlgrs587779404
Max Magnitude0
ClinVar
Risk rs587779404(C;C)
Alt rs587779404(C;C)
Reference rs587779404(T;T)
Significance Pathogenic
Disease Infantile GM1 gangliosidosis
Variation info
Gene TMPPE GLB1
CLNDBN Infantile GM1 gangliosidosis
Reversed 1
HGVS NC_000003.11:g.33093283A>G
CLNSRC
CLNACC RCV000087093.1,