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rs113993946

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113993946(A;A)
Make rs113993946(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position149482996
GeneIDS
is asnp
is mentioned by
dbSNPrs113993946
ebirs113993946
HLIrs113993946
Exacrs113993946
Varsomers113993946
Maprs113993946
PheGenIrs113993946
hapmaprs113993946
1000 genomesrs113993946
hgdprs113993946
ensemblrs113993946
gopubmedrs113993946
geneviewrs113993946
scholarrs113993946
googlers113993946
pharmgkbrs113993946
gwascentralrs113993946
openSNPrs113993946
23andMers113993946
23andMe allrs113993946
SNP Nexus

SNPshotrs113993946
SNPdbers113993946
MSV3drs113993946
GWAS Ctlgrs113993946
Max Magnitude0
OMIM300823
Desc
Variant0013
Relatedalso
OMIM300823
Desc
Variant0015
Relatedalso
OMIM309900
Desc
Variant
Relatedalso
ClinVar
Risk rs113993946(A,C,T;A,C,T)
Alt rs113993946(A,C,T;A,C,T)
Reference rs113993946(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis not provided
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, type II, severe form not provided Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148564527C>A; NC_000023.10:g.148564527C>G; NC_000023.10:g.148564527C>T
CLNSRC OMIM Allelic Variant HGMD
CLNACC RCV000011246.6, RCV000078361.3, RCV000180472.1, RCV000011244.3, RCV000078360.3, RCV000180473.1, RCV000204179.1,