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rs483352904

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs483352904(-;-)
Make rs483352904(-;CA)
ReferenceGRCh38 38.1/142
ChromosomeX
Position149498305
GeneIDS
is asnp
is mentioned by
dbSNPrs483352904
ebirs483352904
HLIrs483352904
Exacrs483352904
Varsomers483352904
Maprs483352904
PheGenIrs483352904
hapmaprs483352904
1000 genomesrs483352904
hgdprs483352904
ensemblrs483352904
gopubmedrs483352904
geneviewrs483352904
scholarrs483352904
googlers483352904
pharmgkbrs483352904
gwascentralrs483352904
openSNPrs483352904
23andMers483352904
23andMe allrs483352904
SNP Nexus

SNPshotrs483352904
SNPdbers483352904
MSV3drs483352904
GWAS Ctlgrs483352904
Max Magnitude0
ClinVar
Risk rs483352904(;)
Alt rs483352904(;)
Reference rs483352904(CA;CA)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148579836_148579837delTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000011242.3,