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rs104893972

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893972(G;G)
Make rs104893972(G;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position31862079
GeneNEU1
is asnp
is mentioned by
dbSNPrs104893972
ebirs104893972
HLIrs104893972
Exacrs104893972
Varsomers104893972
Maprs104893972
PheGenIrs104893972
hapmaprs104893972
1000 genomesrs104893972
hgdprs104893972
ensemblrs104893972
gopubmedrs104893972
geneviewrs104893972
scholarrs104893972
googlers104893972
pharmgkbrs104893972
gwascentralrs104893972
openSNPrs104893972
23andMers104893972
23andMe allrs104893972
SNP Nexus

SNPshotrs104893972
SNPdbers104893972
MSV3drs104893972
GWAS Ctlgrs104893972
Max Magnitude0
OMIM608272
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104893972(G;G)
Alt rs104893972(G;G)
Reference rs104893972(T;T)
Significance Pathogenic
Disease Sialidosis
Variation info
Gene NEU1
CLNDBN Sialidosis, type II
Reversed 1
HGVS NC_000006.11:g.31829856A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002548.2,