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rs797044703

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;TCAA) 3 Carrier of a MPS II mutation; note X-linkage
Make rs797044703(TCAA;TCAA)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position149503412
GeneIDS
is asnp
is mentioned by
dbSNPrs797044703
dbSNP (classic)rs797044703
ClinGenrs797044703
ebirs797044703
HLIrs797044703
Exacrs797044703
Gnomadrs797044703
Varsomers797044703
LitVarrs797044703
Maprs797044703
PheGenIrs797044703
Biobankrs797044703
1000 genomesrs797044703
hgdprs797044703
ensemblrs797044703
geneviewrs797044703
scholarrs797044703
googlers797044703
pharmgkbrs797044703
gwascentralrs797044703
openSNPrs797044703
23andMers797044703
SNPshotrs797044703
SNPdbers797044703
MSV3drs797044703
GWAS Ctlgrs797044703
Max Magnitude3
ClinVar
Risk rs797044703(TCAA;TCAA)
Alt rs797044703(TCAA;TCAA)
Reference Rs797044703(-;-)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148584942_148584943insTTGA
CLNSRC
CLNACC RCV000177015.1,