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rs193922915

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922915(C;C)
Make rs193922915(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position31859879
GeneNEU1
is asnp
is mentioned by
dbSNPrs193922915
ebirs193922915
HLIrs193922915
Exacrs193922915
Varsomers193922915
Maprs193922915
PheGenIrs193922915
hapmaprs193922915
1000 genomesrs193922915
hgdprs193922915
ensemblrs193922915
gopubmedrs193922915
geneviewrs193922915
scholarrs193922915
googlers193922915
pharmgkbrs193922915
gwascentralrs193922915
openSNPrs193922915
23andMers193922915
23andMe allrs193922915
SNP Nexus

SNPshotrs193922915
SNPdbers193922915
MSV3drs193922915
GWAS Ctlgrs193922915
Max Magnitude0
ClinVar
Risk rs193922915(C;C)
Alt rs193922915(C;C)
Reference rs193922915(T;T)
Significance Pathogenic
Disease Sialidosis
Variation info
Gene NEU1
CLNDBN Sialidosis, type II
Reversed 1
HGVS NC_000006.11:g.31827656A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002551.3,