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rs104894856

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894856(C;G)
Make rs104894856(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position149500977
GeneIDS
is asnp
is mentioned by
dbSNPrs104894856
dbSNP (classic)rs104894856
ClinGenrs104894856
ebirs104894856
HLIrs104894856
Exacrs104894856
Gnomadrs104894856
Varsomers104894856
LitVarrs104894856
Maprs104894856
PheGenIrs104894856
Biobankrs104894856
1000 genomesrs104894856
hgdprs104894856
ensemblrs104894856
geneviewrs104894856
scholarrs104894856
googlers104894856
pharmgkbrs104894856
gwascentralrs104894856
openSNPrs104894856
23andMers104894856
SNPshotrs104894856
SNPdbers104894856
MSV3drs104894856
GWAS Ctlgrs104894856
Max Magnitude0
OMIM300823
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894856(G;G)
Alt rs104894856(G;G)
Reference Rs104894856(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148582508G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011235.7,