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rs137854548

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137854548(C;C)
Make rs137854548(C;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position45897769
GeneCTSA
is asnp
is mentioned by
dbSNPrs137854548
ebirs137854548
HLIrs137854548
Exacrs137854548
Varsomers137854548
Maprs137854548
PheGenIrs137854548
hapmaprs137854548
1000 genomesrs137854548
hgdprs137854548
ensemblrs137854548
gopubmedrs137854548
geneviewrs137854548
scholarrs137854548
googlers137854548
pharmgkbrs137854548
gwascentralrs137854548
openSNPrs137854548
23andMers137854548
23andMe allrs137854548
SNP Nexus

SNPshotrs137854548
SNPdbers137854548
MSV3drs137854548
GWAS Ctlgrs137854548
Max Magnitude0
OMIM613111
Desc
Variant0012
Relatedalso
ClinVar
Risk rs137854548(C;C)
Alt rs137854548(C;C)
Reference Rs137854548(T;T)
Significance Pathogenic
Disease Galactosialidosis
Variation info
Gene CTSA
CLNDBN Galactosialidosis, late infantile
Reversed 0
HGVS NC_000020.10:g.44526408T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000417.4,