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rs376663785

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs376663785(A;C)
Make rs376663785(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome3
Position33051989
GeneGLB1
is asnp
is mentioned by
dbSNPrs376663785
dbSNP (classic)rs376663785
ClinGenrs376663785
ebirs376663785
HLIrs376663785
Exacrs376663785
Gnomadrs376663785
Varsomers376663785
LitVarrs376663785
Maprs376663785
PheGenIrs376663785
Biobankrs376663785
1000 genomesrs376663785
hgdprs376663785
ensemblrs376663785
geneviewrs376663785
scholarrs376663785
googlers376663785
pharmgkbrs376663785
gwascentralrs376663785
openSNPrs376663785
23andMers376663785
SNPshotrs376663785
SNPdbers376663785
MSV3drs376663785
GWAS Ctlgrs376663785
Max Magnitude0
ClinVar
Risk rs376663785(C;C)
Alt rs376663785(C;C)
Reference Rs376663785(A;A)
Significance Pathogenic
Disease Infantile GM1 gangliosidosis Mucopolysaccharidosis
Variation info
Gene TMPPE GLB1
CLNDBN Infantile GM1 gangliosidosis Mucopolysaccharidosis, MPS-IV-B
Reversed 0
HGVS NC_000003.11:g.33093481A>C
CLNSRC
CLNACC RCV000347612.1, RCV000394616.1,