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rs797044502

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044502(-;-)
Make rs797044502(-;C)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position149486957
GeneIDS
is asnp
is mentioned by
dbSNPrs797044502
dbSNP (classic)rs797044502
ClinGenrs797044502
ebirs797044502
HLIrs797044502
Exacrs797044502
Gnomadrs797044502
Varsomers797044502
LitVarrs797044502
Maprs797044502
PheGenIrs797044502
Biobankrs797044502
1000 genomesrs797044502
hgdprs797044502
ensemblrs797044502
geneviewrs797044502
scholarrs797044502
googlers797044502
pharmgkbrs797044502
gwascentralrs797044502
openSNPrs797044502
23andMers797044502
SNPshotrs797044502
SNPdbers797044502
MSV3drs797044502
GWAS Ctlgrs797044502
Max Magnitude0
ClinVar
Risk rs797044502(-;-)
Alt rs797044502(-;-)
Reference Rs797044502(C;C)
Significance Pathogenic
Disease not provided Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN not provided Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148568488delG
CLNSRC HGMD
CLNACC RCV000153374.2, RCV000180106.1,