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rs587779403

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587779403(-;-)
Make rs587779403(-;G)
Make rs587779403(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position33021610
GeneGLB1
is asnp
is mentioned by
dbSNPrs587779403
ebirs587779403
HLIrs587779403
Exacrs587779403
Varsomers587779403
Maprs587779403
PheGenIrs587779403
hapmaprs587779403
1000 genomesrs587779403
hgdprs587779403
ensemblrs587779403
gopubmedrs587779403
geneviewrs587779403
scholarrs587779403
googlers587779403
pharmgkbrs587779403
gwascentralrs587779403
openSNPrs587779403
23andMers587779403
23andMe allrs587779403
SNP Nexus

SNPshotrs587779403
SNPdbers587779403
MSV3drs587779403
GWAS Ctlgrs587779403
Max Magnitude0
ClinVar
Risk rs587779403(G;G)
Alt rs587779403(G;G)
Reference rs587779403(;)
Significance Pathogenic
Disease Infantile GM1 gangliosidosis
Variation info
Gene TMPPE GLB1
CLNDBN Infantile GM1 gangliosidosis
Reversed 1
HGVS NC_000003.11:g.33063103dupC
CLNSRC
CLNACC RCV000087091.1,