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rs104893984

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893984(A;A)
Make rs104893984(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position31862690
GeneNEU1
is asnp
is mentioned by
dbSNPrs104893984
ebirs104893984
HLIrs104893984
Exacrs104893984
Varsomers104893984
Maprs104893984
PheGenIrs104893984
hapmaprs104893984
1000 genomesrs104893984
hgdprs104893984
ensemblrs104893984
gopubmedrs104893984
geneviewrs104893984
scholarrs104893984
googlers104893984
pharmgkbrs104893984
gwascentralrs104893984
openSNPrs104893984
23andMers104893984
23andMe allrs104893984
SNP Nexus

SNPshotrs104893984
SNPdbers104893984
MSV3drs104893984
GWAS Ctlgrs104893984
Max Magnitude0
OMIM608272
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104893984(A,C;A,C)
Alt rs104893984(A,C;A,C)
Reference rs104893984(G;G)
Significance Pathogenic
Disease Sialidosis
Variation info
Gene NEU1
CLNDBN Sialidosis, type II
Reversed 1
HGVS NC_000006.11:g.31830467C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002555.3,