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rs104893978

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893978(C;C)
Make rs104893978(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position31860519
GeneNEU1
is asnp
is mentioned by
dbSNPrs104893978
ebirs104893978
HLIrs104893978
Exacrs104893978
Varsomers104893978
Maprs104893978
PheGenIrs104893978
hapmaprs104893978
1000 genomesrs104893978
hgdprs104893978
ensemblrs104893978
gopubmedrs104893978
geneviewrs104893978
scholarrs104893978
googlers104893978
pharmgkbrs104893978
gwascentralrs104893978
openSNPrs104893978
23andMers104893978
23andMe allrs104893978
SNP Nexus

SNPshotrs104893978
SNPdbers104893978
MSV3drs104893978
GWAS Ctlgrs104893978
Max Magnitude0
OMIM608272
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104893978(C;C)
Alt rs104893978(C;C)
Reference rs104893978(T;T)
Significance Pathogenic
Disease Sialidosis
Variation info
Gene NEU1
CLNDBN Sialidosis, type II
Reversed 1
HGVS NC_000006.11:g.31828296A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002557.3,