Have questions? Visit https://www.reddit.com/r/SNPedia

rs28934603

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28934603(C;C)
Make rs28934603(C;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position45891761
GeneCTSA, NEURL2
is asnp
is mentioned by
dbSNPrs28934603
ebirs28934603
HLIrs28934603
Exacrs28934603
Varsomers28934603
Maprs28934603
PheGenIrs28934603
hapmaprs28934603
1000 genomesrs28934603
hgdprs28934603
ensemblrs28934603
gopubmedrs28934603
geneviewrs28934603
scholarrs28934603
googlers28934603
pharmgkbrs28934603
gwascentralrs28934603
openSNPrs28934603
23andMers28934603
23andMe allrs28934603
SNP Nexus

SNPshotrs28934603
SNPdbers28934603
MSV3drs28934603
GWAS Ctlgrs28934603
Max Magnitude0
OMIM256540
DescGALACTOSIALIDOSIS
Variant0004
Relatedalso
OMIM613111
Desc
Variant0004
Relatedalso


ClinVar
Risk rs28934603(C;C)
Alt rs28934603(C;C)
Reference rs28934603(T;T)
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.44520400T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000409.4,