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rs869025304

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs869025304(CCGTATAGCTGG;CCGTATAGCTGG)
Make rs869025304(CCGTATAGCTGG;TT)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position149500992
GeneIDS
is asnp
is mentioned by
dbSNPrs869025304
dbSNP (classic)rs869025304
ClinGenrs869025304
ebirs869025304
HLIrs869025304
Exacrs869025304
Gnomadrs869025304
Varsomers869025304
LitVarrs869025304
Maprs869025304
PheGenIrs869025304
Biobankrs869025304
1000 genomesrs869025304
hgdprs869025304
ensemblrs869025304
geneviewrs869025304
scholarrs869025304
googlers869025304
pharmgkbrs869025304
gwascentralrs869025304
openSNPrs869025304
23andMers869025304
SNPshotrs869025304
SNPdbers869025304
MSV3drs869025304
GWAS Ctlgrs869025304
Max Magnitude0
ClinVar
Risk rs869025304(CCGTATAGCTGG;CCGTATAGCTGG)
Alt rs869025304(CCGTATAGCTGG;CCGTATAGCTGG)
Reference Rs869025304(TT;TT)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148582523_148582524delAAinsCCAGCTATACGG
CLNSRC
CLNACC RCV000207427.1,