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rs748830051

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs748830051(C;T)
Make rs748830051(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position33068940
GeneGLB1
is asnp
is mentioned by
dbSNPrs748830051
ebirs748830051
HLIrs748830051
Exacrs748830051
Varsomers748830051
Maprs748830051
PheGenIrs748830051
hapmaprs748830051
1000 genomesrs748830051
hgdprs748830051
ensemblrs748830051
gopubmedrs748830051
geneviewrs748830051
scholarrs748830051
googlers748830051
pharmgkbrs748830051
gwascentralrs748830051
openSNPrs748830051
23andMers748830051
23andMe allrs748830051
SNP Nexus

SNPshotrs748830051
SNPdbers748830051
MSV3drs748830051
GWAS Ctlgrs748830051
Max Magnitude0
ClinVar
Risk rs748830051(T;T)
Alt rs748830051(T;T)
Reference rs748830051(C;C)
Significance Probable-Pathogenic
Disease Infantile GM1 gangliosidosis
Variation info
Gene TMPPE GLB1
CLNDBN Infantile GM1 gangliosidosis
Reversed 0
HGVS NC_000003.11:g.33110432C>T
CLNSRC
CLNACC RCV000234894.1,