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rs104894863

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 1 Likely miscall in LivingDNA data
(G;G) 0 common in clinvar
Make rs104894863(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position149482933
GeneIDS
is asnp
is mentioned by
dbSNPrs104894863
dbSNP (classic)rs104894863
ClinGenrs104894863
ebirs104894863
HLIrs104894863
Exacrs104894863
Gnomadrs104894863
Varsomers104894863
LitVarrs104894863
Maprs104894863
PheGenIrs104894863
Biobankrs104894863
1000 genomesrs104894863
hgdprs104894863
ensemblrs104894863
geneviewrs104894863
scholarrs104894863
googlers104894863
pharmgkbrs104894863
gwascentralrs104894863
openSNPrs104894863
23andMers104894863
SNPshotrs104894863
SNPdbers104894863
MSV3drs104894863
GWAS Ctlgrs104894863
Max Magnitude1
ClinVar
Risk Rs104894863(C;C)
Alt Rs104894863(C;C)
Reference Rs104894863(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148564464C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011248.5,