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rs104893985

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893985(C;T)
Make rs104893985(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position31862112
GeneNEU1
is asnp
is mentioned by
dbSNPrs104893985
ebirs104893985
HLIrs104893985
Exacrs104893985
Varsomers104893985
Maprs104893985
PheGenIrs104893985
hapmaprs104893985
1000 genomesrs104893985
hgdprs104893985
ensemblrs104893985
gopubmedrs104893985
geneviewrs104893985
scholarrs104893985
googlers104893985
pharmgkbrs104893985
gwascentralrs104893985
openSNPrs104893985
23andMers104893985
23andMe allrs104893985
SNP Nexus

SNPshotrs104893985
SNPdbers104893985
MSV3drs104893985
GWAS Ctlgrs104893985
Max Magnitude0
OMIM608272
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104893985(T;T)
Alt rs104893985(T;T)
Reference rs104893985(C;C)
Significance Pathogenic
Disease Sialidosis
Variation info
Gene NEU1
CLNDBN Sialidosis, type II
Reversed 1
HGVS NC_000006.11:g.31829889G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002556.2,