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rs104893971

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893971(G;T)
Make rs104893971(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position31859838
GeneNEU1
is asnp
is mentioned by
dbSNPrs104893971
ebirs104893971
HLIrs104893971
Exacrs104893971
Varsomers104893971
Maprs104893971
PheGenIrs104893971
hapmaprs104893971
1000 genomesrs104893971
hgdprs104893971
ensemblrs104893971
gopubmedrs104893971
geneviewrs104893971
scholarrs104893971
googlers104893971
pharmgkbrs104893971
gwascentralrs104893971
openSNPrs104893971
23andMers104893971
23andMe allrs104893971
SNP Nexus

SNPshotrs104893971
SNPdbers104893971
MSV3drs104893971
GWAS Ctlgrs104893971
Max Magnitude0
OMIM608272
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104893971(T;T)
Alt rs104893971(T;T)
Reference rs104893971(G;G)
Significance Pathogenic
Disease Sialidosis type I
Variation info
Gene NEU1
CLNDBN Sialidosis type I
Reversed 1
HGVS NC_000006.11:g.31827615C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002547.2,