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rs104894853

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894853(C;T)
Make rs104894853(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position149490322
GeneIDS
is asnp
is mentioned by
dbSNPrs104894853
dbSNP (classic)rs104894853
ClinGenrs104894853
ebirs104894853
HLIrs104894853
Exacrs104894853
Gnomadrs104894853
Varsomers104894853
LitVarrs104894853
Maprs104894853
PheGenIrs104894853
Biobankrs104894853
1000 genomesrs104894853
hgdprs104894853
ensemblrs104894853
geneviewrs104894853
scholarrs104894853
googlers104894853
pharmgkbrs104894853
gwascentralrs104894853
openSNPrs104894853
23andMers104894853
SNPshotrs104894853
SNPdbers104894853
MSV3drs104894853
GWAS Ctlgrs104894853
Max Magnitude0
OMIM300823
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894853(T;T)
Alt rs104894853(T;T)
Reference Rs104894853(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis not provided
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, MPS-II not provided
Reversed 1
HGVS NC_000023.10:g.148571853G>A
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011233.7, RCV000078369.3,