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rs104894862

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894862(G;T)
Make rs104894862(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position149482935
GeneIDS
is asnp
is mentioned by
dbSNPrs104894862
ebirs104894862
HLIrs104894862
Exacrs104894862
Varsomers104894862
Maprs104894862
PheGenIrs104894862
hapmaprs104894862
1000 genomesrs104894862
hgdprs104894862
ensemblrs104894862
gopubmedrs104894862
geneviewrs104894862
scholarrs104894862
googlers104894862
pharmgkbrs104894862
gwascentralrs104894862
openSNPrs104894862
23andMers104894862
23andMe allrs104894862
SNP Nexus

SNPshotrs104894862
SNPdbers104894862
MSV3drs104894862
GWAS Ctlgrs104894862
Max Magnitude0
ClinVar
Risk rs104894862(T;T)
Alt rs104894862(T;T)
Reference rs104894862(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148564466C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011248.4,