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rs797044750

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044750(-;T)
Make rs797044750(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position149498124
GeneIDS
is asnp
is mentioned by
dbSNPrs797044750
ClinGenrs797044750
ebirs797044750
HLIrs797044750
Exacrs797044750
Varsomers797044750
Maprs797044750
PheGenIrs797044750
hapmaprs797044750
1000 genomesrs797044750
hgdprs797044750
ensemblrs797044750
gopubmedrs797044750
geneviewrs797044750
scholarrs797044750
googlers797044750
pharmgkbrs797044750
gwascentralrs797044750
openSNPrs797044750
23andMers797044750
23andMe allrs797044750
SNP Nexus

SNPshotrs797044750
SNPdbers797044750
MSV3drs797044750
GWAS Ctlgrs797044750
Max Magnitude0
ClinVar
Risk rs797044750(T;T)
Alt rs797044750(T;T)
Reference Rs797044750(-;-)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148579655_148579656insA
CLNSRC
CLNACC RCV000178732.1,