Have questions? Visit https://www.reddit.com/r/SNPedia

rs727503954

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503954(A;A)
Make rs727503954(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position33051896
GeneGLB1
is asnp
is mentioned by
dbSNPrs727503954
ebirs727503954
HLIrs727503954
Exacrs727503954
Varsomers727503954
Maprs727503954
PheGenIrs727503954
hapmaprs727503954
1000 genomesrs727503954
hgdprs727503954
ensemblrs727503954
gopubmedrs727503954
geneviewrs727503954
scholarrs727503954
googlers727503954
pharmgkbrs727503954
gwascentralrs727503954
openSNPrs727503954
23andMers727503954
23andMe allrs727503954
SNP Nexus

SNPshotrs727503954
SNPdbers727503954
MSV3drs727503954
GWAS Ctlgrs727503954
Max Magnitude0
ClinVar
Risk rs727503954(A;A)
Alt rs727503954(A;A)
Reference rs727503954(G;G)
Significance Probable-Pathogenic
Disease not provided Mucopolysaccharidosis Gangliosidosis GM1 type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis
Variation info
Gene TMPPE GLB1
CLNDBN not provided Mucopolysaccharidosis, MPS-IV-B Gangliosidosis GM1 type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis
Reversed 1
HGVS NC_000003.11:g.33093388C>T
CLNSRC
CLNACC RCV000153330.2, RCV000180155.1, RCV000180156.1, RCV000180157.1, RCV000180158.1,