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rs137854543

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137854543(A;G)
Make rs137854543(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position45897736
GeneCTSA
is asnp
is mentioned by
dbSNPrs137854543
ClinGenrs137854543
ebirs137854543
HLIrs137854543
Exacrs137854543
Varsomers137854543
Maprs137854543
PheGenIrs137854543
hapmaprs137854543
1000 genomesrs137854543
hgdprs137854543
ensemblrs137854543
gopubmedrs137854543
geneviewrs137854543
scholarrs137854543
googlers137854543
pharmgkbrs137854543
gwascentralrs137854543
openSNPrs137854543
23andMers137854543
23andMe allrs137854543
SNP Nexus

SNPshotrs137854543
SNPdbers137854543
MSV3drs137854543
GWAS Ctlgrs137854543
Max Magnitude0
OMIM613111
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137854543(G;G)
Alt rs137854543(G;G)
Reference Rs137854543(A;A)
Significance Pathogenic
Disease Combined deficiency of sialidase AND beta galactosidase
Variation info
Gene CTSA
CLNDBN Combined deficiency of sialidase AND beta galactosidase
Reversed 0
HGVS NC_000020.10:g.44526375A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000411.4,