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rs371546950

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs371546950(C;C)
Make rs371546950(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position33051988
GeneGLB1
is asnp
is mentioned by
dbSNPrs371546950
ebirs371546950
HLIrs371546950
Exacrs371546950
Varsomers371546950
Maprs371546950
PheGenIrs371546950
hapmaprs371546950
1000 genomesrs371546950
hgdprs371546950
ensemblrs371546950
gopubmedrs371546950
geneviewrs371546950
scholarrs371546950
googlers371546950
pharmgkbrs371546950
gwascentralrs371546950
openSNPrs371546950
23andMers371546950
23andMe allrs371546950
SNP Nexus

SNPshotrs371546950
SNPdbers371546950
MSV3drs371546950
GWAS Ctlgrs371546950
Max Magnitude0
ClinVar
Risk rs371546950(C;C)
Alt rs371546950(C;C)
Reference rs371546950(T;T)
Significance Probable-Pathogenic
Disease Infantile GM1 gangliosidosis not provided
Variation info
Gene TMPPE GLB1
CLNDBN Infantile GM1 gangliosidosis not provided
Reversed 0
HGVS NC_000003.11:g.33093480T>C; NC_000003.11:g.33093480T>G
CLNSRC
CLNACC RCV000180154.1, RCV000180159.1,