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rs104893980

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893980(C;C)
Make rs104893980(C;G)
ReferenceGRCh38 38.1/142
Chromosome6
Position31860563
GeneNEU1
is asnp
is mentioned by
dbSNPrs104893980
ebirs104893980
HLIrs104893980
Exacrs104893980
Varsomers104893980
Maprs104893980
PheGenIrs104893980
hapmaprs104893980
1000 genomesrs104893980
hgdprs104893980
ensemblrs104893980
gopubmedrs104893980
geneviewrs104893980
scholarrs104893980
googlers104893980
pharmgkbrs104893980
gwascentralrs104893980
openSNPrs104893980
23andMers104893980
23andMe allrs104893980
SNP Nexus

SNPshotrs104893980
SNPdbers104893980
MSV3drs104893980
GWAS Ctlgrs104893980
Merged fromRs28940584
Max Magnitude0
OMIM608272
Desc
Variant0014
Relatedalso
ClinVar
Risk rs104893980(C;C)
Alt rs104893980(C;C)
Reference rs104893980(G;G)
Significance Pathogenic
Disease Sialidosis
Variation info
Gene NEU1
CLNDBN Sialidosis, type II
Reversed 1
HGVS NC_000006.11:g.31828340C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002560.2,