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rs137854547

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854547(A;A)
Make rs137854547(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position45898065
GeneCTSA
is asnp
is mentioned by
dbSNPrs137854547
ebirs137854547
HLIrs137854547
Exacrs137854547
Varsomers137854547
Maprs137854547
PheGenIrs137854547
hapmaprs137854547
1000 genomesrs137854547
hgdprs137854547
ensemblrs137854547
gopubmedrs137854547
geneviewrs137854547
scholarrs137854547
googlers137854547
pharmgkbrs137854547
gwascentralrs137854547
openSNPrs137854547
23andMers137854547
23andMe allrs137854547
SNP Nexus

SNPshotrs137854547
SNPdbers137854547
MSV3drs137854547
GWAS Ctlgrs137854547
Max Magnitude0
OMIM613111
Desc
Variant0011
Relatedalso
ClinVar
Risk rs137854547(A;A)
Alt rs137854547(A;A)
Reference rs137854547(G;G)
Significance Pathogenic
Disease Galactosialidosis
Variation info
Gene CTSA
CLNDBN Galactosialidosis, early infantile
Reversed 0
HGVS NC_000020.10:g.44526704G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000416.3,