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rs137854544

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137854544(A;A)
Make rs137854544(A;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position45894040
GeneCTSA
is asnp
is mentioned by
dbSNPrs137854544
ebirs137854544
HLIrs137854544
Exacrs137854544
Varsomers137854544
Maprs137854544
PheGenIrs137854544
hapmaprs137854544
1000 genomesrs137854544
hgdprs137854544
ensemblrs137854544
gopubmedrs137854544
geneviewrs137854544
scholarrs137854544
googlers137854544
pharmgkbrs137854544
gwascentralrs137854544
openSNPrs137854544
23andMers137854544
23andMe allrs137854544
SNP Nexus

SNPshotrs137854544
SNPdbers137854544
MSV3drs137854544
GWAS Ctlgrs137854544
Max Magnitude0
OMIM613111
Desc
Variant0007
Relatedalso
OMIM613111
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137854544(A;A)
Alt rs137854544(A;A)
Reference rs137854544(T;T)
Significance Pathogenic
Disease Combined deficiency of sialidase AND beta galactosidase Galactosialidosis
Variation info
Gene CTSA
CLNDBN Combined deficiency of sialidase AND beta galactosidase Galactosialidosis, late infantile
Reversed 0
HGVS NC_000020.10:g.44522679T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000412.3, RCV000000413.4,