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rs137854541

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137854541(A;G)
Make rs137854541(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position45891714
GeneCTSA, NEURL2
is asnp
is mentioned by
dbSNPrs137854541
ebirs137854541
HLIrs137854541
Exacrs137854541
Varsomers137854541
Maprs137854541
PheGenIrs137854541
hapmaprs137854541
1000 genomesrs137854541
hgdprs137854541
ensemblrs137854541
gopubmedrs137854541
geneviewrs137854541
scholarrs137854541
googlers137854541
pharmgkbrs137854541
gwascentralrs137854541
openSNPrs137854541
23andMers137854541
23andMe allrs137854541
SNP Nexus

SNPshotrs137854541
SNPdbers137854541
MSV3drs137854541
GWAS Ctlgrs137854541
Max Magnitude0
OMIM613111
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137854541(G;G)
Alt rs137854541(G;G)
Reference rs137854541(A;A)
Significance Pathogenic
Disease Combined deficiency of sialidase AND beta galactosidase
Variation info
Gene CTSA NEURL2
CLNDBN Combined deficiency of sialidase AND beta galactosidase
Reversed 0
HGVS NC_000020.10:g.44520353A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000408.4,