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rs104893981

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893981(C;T)
Make rs104893981(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position31860170
GeneNEU1
is asnp
is mentioned by
dbSNPrs104893981
dbSNP (classic)rs104893981
ClinGenrs104893981
ebirs104893981
HLIrs104893981
Exacrs104893981
Gnomadrs104893981
Varsomers104893981
LitVarrs104893981
Maprs104893981
PheGenIrs104893981
Biobankrs104893981
1000 genomesrs104893981
hgdprs104893981
ensemblrs104893981
geneviewrs104893981
scholarrs104893981
googlers104893981
pharmgkbrs104893981
gwascentralrs104893981
openSNPrs104893981
23andMers104893981
SNPshotrs104893981
SNPdbers104893981
MSV3drs104893981
GWAS Ctlgrs104893981
Max Magnitude0
OMIM608272
Desc
Variant0015
Relatedalso
ClinVar
Risk rs104893981(T;T)
Alt rs104893981(T;T)
Reference Rs104893981(C;C)
Significance Other
Disease Sialidosis
Variation info
Gene NEU1
CLNDBN Sialidosis, type II
Reversed 1
HGVS NC_000006.11:g.31827947G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002561.4,