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rs137854549

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137854549(A;G)
Make rs137854549(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position45898107
GeneCTSA
is asnp
is mentioned by
dbSNPrs137854549
ebirs137854549
HLIrs137854549
Exacrs137854549
Varsomers137854549
Maprs137854549
PheGenIrs137854549
hapmaprs137854549
1000 genomesrs137854549
hgdprs137854549
ensemblrs137854549
gopubmedrs137854549
geneviewrs137854549
scholarrs137854549
googlers137854549
pharmgkbrs137854549
gwascentralrs137854549
openSNPrs137854549
23andMers137854549
23andMe allrs137854549
SNP Nexus

SNPshotrs137854549
SNPdbers137854549
MSV3drs137854549
GWAS Ctlgrs137854549
Max Magnitude0
OMIM613111
Desc
Variant0014
Relatedalso
ClinVar
Risk rs137854549(G;G)
Alt rs137854549(G;G)
Reference rs137854549(A;A)
Significance Pathogenic
Disease Galactosialidosis
Variation info
Gene CTSA
CLNDBN Galactosialidosis, late infantile
Reversed 0
HGVS NC_000020.10:g.44526746A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000419.2,