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rs483352905

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TCC;TCC) 0 common in clinvar


Make rs483352905(-;-)
ReferenceGRCh38 38.1/142
ChromosomeX
Position149503379
GeneIDS
is asnp
is mentioned by
dbSNPrs483352905
dbSNP (classic)rs483352905
ClinGenrs483352905
ebirs483352905
HLIrs483352905
Exacrs483352905
Gnomadrs483352905
Varsomers483352905
LitVarrs483352905
Maprs483352905
PheGenIrs483352905
Biobankrs483352905
1000 genomesrs483352905
hgdprs483352905
ensemblrs483352905
geneviewrs483352905
scholarrs483352905
googlers483352905
pharmgkbrs483352905
gwascentralrs483352905
openSNPrs483352905
23andMers483352905
SNPshotrs483352905
SNPdbers483352905
MSV3drs483352905
GWAS Ctlgrs483352905
Max Magnitude0
ClinVar
Risk rs483352905(-;-)
Alt rs483352905(-;-)
Reference Rs483352905(TCC;TCC)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148584909_148584911delGGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000011247.3,