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rs137854540

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137854540(G;G)
Make rs137854540(G;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position45898068
GeneCTSA
is asnp
is mentioned by
dbSNPrs137854540
ebirs137854540
HLIrs137854540
Exacrs137854540
Varsomers137854540
Maprs137854540
PheGenIrs137854540
hapmaprs137854540
1000 genomesrs137854540
hgdprs137854540
ensemblrs137854540
gopubmedrs137854540
geneviewrs137854540
scholarrs137854540
googlers137854540
pharmgkbrs137854540
gwascentralrs137854540
openSNPrs137854540
23andMers137854540
23andMe allrs137854540
SNP Nexus

SNPshotrs137854540
SNPdbers137854540
MSV3drs137854540
GWAS Ctlgrs137854540
Max Magnitude0
OMIM613111
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137854540(G;G)
Alt rs137854540(G;G)
Reference rs137854540(T;T)
Significance Pathogenic
Disease Galactosialidosis
Variation info
Gene CTSA
CLNDBN Galactosialidosis, late infantile
Reversed 0
HGVS NC_000020.10:g.44526707T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000406.4,