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rs137854545

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854545(A;A)
Make rs137854545(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position45892434
GeneCTSA, NEURL2
is asnp
is mentioned by
dbSNPrs137854545
ebirs137854545
HLIrs137854545
Exacrs137854545
Varsomers137854545
Maprs137854545
PheGenIrs137854545
hapmaprs137854545
1000 genomesrs137854545
hgdprs137854545
ensemblrs137854545
gopubmedrs137854545
geneviewrs137854545
scholarrs137854545
googlers137854545
pharmgkbrs137854545
gwascentralrs137854545
openSNPrs137854545
23andMers137854545
23andMe allrs137854545
SNP Nexus

SNPshotrs137854545
SNPdbers137854545
MSV3drs137854545
GWAS Ctlgrs137854545
Max Magnitude0
OMIM613111
Desc
Variant0009
Relatedalso
ClinVar
Risk rs137854545(A;A)
Alt rs137854545(A;A)
Reference rs137854545(G;G)
Significance Pathogenic
Disease Galactosialidosis Combined deficiency of sialidase AND beta galactosidase
Variation info
Gene CTSA NEURL2
CLNDBN Galactosialidosis, early infantile Combined deficiency of sialidase AND beta galactosidase
Reversed 0
HGVS NC_000020.10:g.44521073G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000414.3, RCV000087090.1,