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rs104894599

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894599(A;A)
Make rs104894599(A;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position42536416
GeneNAGLU
is asnp
is mentioned by
dbSNPrs104894599
dbSNP (classic)rs104894599
ClinGenrs104894599
ebirs104894599
HLIrs104894599
Exacrs104894599
Gnomadrs104894599
Varsomers104894599
LitVarrs104894599
Maprs104894599
PheGenIrs104894599
Biobankrs104894599
1000 genomesrs104894599
hgdprs104894599
ensemblrs104894599
geneviewrs104894599
scholarrs104894599
googlers104894599
pharmgkbrs104894599
gwascentralrs104894599
openSNPrs104894599
23andMers104894599
SNPshotrs104894599
SNPdbers104894599
MSV3drs104894599
GWAS Ctlgrs104894599
Max Magnitude0
OMIM609701
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104894599(A;A)
Alt rs104894599(A;A)
Reference Rs104894599(C;C)
Significance Untested
Disease Mucopolysaccharidosis
Variation info
Gene NAGLU
CLNDBN Mucopolysaccharidosis, MPS-III-B
Reversed 0
HGVS NC_000017.10:g.40688434C>A
CLNSRC OMIM Allelic Variant
CLNACC SCV000021791.1, SCV000021791.1,