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

rs137854546

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137854546(C;C)
Make rs137854546(C;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position45894002
GeneCTSA
is asnp
is mentioned by
dbSNPrs137854546
ebirs137854546
HLIrs137854546
Exacrs137854546
Varsomers137854546
Maprs137854546
PheGenIrs137854546
hapmaprs137854546
1000 genomesrs137854546
hgdprs137854546
ensemblrs137854546
gopubmedrs137854546
geneviewrs137854546
scholarrs137854546
googlers137854546
pharmgkbrs137854546
gwascentralrs137854546
openSNPrs137854546
23andMers137854546
23andMe allrs137854546
SNP Nexus

SNPshotrs137854546
SNPdbers137854546
MSV3drs137854546
GWAS Ctlgrs137854546
Max Magnitude0
OMIM613111
Desc
Variant0010
Relatedalso
ClinVar
Risk rs137854546(C;C)
Alt rs137854546(C;C)
Reference rs137854546(T;T)
Significance Pathogenic
Disease Galactosialidosis
Variation info
Gene CTSA
CLNDBN Galactosialidosis, early infantile
Reversed 0
HGVS NC_000020.10:g.44522641T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000415.3,