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rs371582179

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs371582179(C;C)
Make rs371582179(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position33014057
GeneGLB1
is asnp
is mentioned by
dbSNPrs371582179
ebirs371582179
HLIrs371582179
Exacrs371582179
Varsomers371582179
Maprs371582179
PheGenIrs371582179
hapmaprs371582179
1000 genomesrs371582179
hgdprs371582179
ensemblrs371582179
gopubmedrs371582179
geneviewrs371582179
scholarrs371582179
googlers371582179
pharmgkbrs371582179
gwascentralrs371582179
openSNPrs371582179
23andMers371582179
23andMe allrs371582179
SNP Nexus

SNPshotrs371582179
SNPdbers371582179
MSV3drs371582179
GWAS Ctlgrs371582179
Max Magnitude0
ClinVar
Risk rs371582179(C;C)
Alt rs371582179(C;C)
Reference rs371582179(T;T)
Significance Pathogenic
Disease GM1 gangliosidosis type 2
Variation info
Gene TMPPE GLB1
CLNDBN GM1 gangliosidosis type 2
Reversed 0
HGVS NC_000003.11:g.33055549T>C
CLNSRC
CLNACC RCV000239412.1,