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rs104893983

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893983(A;A)
Make rs104893983(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position31860510
GeneNEU1
is asnp
is mentioned by
dbSNPrs104893983
ebirs104893983
HLIrs104893983
Exacrs104893983
Varsomers104893983
Maprs104893983
PheGenIrs104893983
hapmaprs104893983
1000 genomesrs104893983
hgdprs104893983
ensemblrs104893983
gopubmedrs104893983
geneviewrs104893983
scholarrs104893983
googlers104893983
pharmgkbrs104893983
gwascentralrs104893983
openSNPrs104893983
23andMers104893983
23andMe allrs104893983
SNP Nexus

SNPshotrs104893983
SNPdbers104893983
MSV3drs104893983
GWAS Ctlgrs104893983
Max Magnitude0
OMIM608272
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104893983(A;A)
Alt rs104893983(A;A)
Reference rs104893983(G;G)
Significance Pathogenic
Disease Sialidosis type I not provided
Variation info
Gene NEU1
CLNDBN Sialidosis type I not provided
Reversed 1
HGVS NC_000006.11:g.31828287C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000002554.3, RCV000078816.4,