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rs113993947

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113993947(A;A)
Make rs113993947(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position149498308
GeneIDS
is asnp
is mentioned by
dbSNPrs113993947
ebirs113993947
HLIrs113993947
Exacrs113993947
Varsomers113993947
Maprs113993947
PheGenIrs113993947
hapmaprs113993947
1000 genomesrs113993947
hgdprs113993947
ensemblrs113993947
gopubmedrs113993947
geneviewrs113993947
scholarrs113993947
googlers113993947
pharmgkbrs113993947
gwascentralrs113993947
openSNPrs113993947
23andMers113993947
23andMe allrs113993947
SNP Nexus

SNPshotrs113993947
SNPdbers113993947
MSV3drs113993947
GWAS Ctlgrs113993947
Max Magnitude0
ClinVar
Risk rs113993947(A;A)
Alt rs113993947(A;A)
Reference rs113993947(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148579839C>G; NC_000023.10:g.148579839C>T
CLNSRC
CLNACC RCV000207376.1, RCV000206667.1,