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rs199422231

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422231(C;T)
Make rs199422231(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position149482997
GeneIDS
is asnp
is mentioned by
dbSNPrs199422231
ebirs199422231
HLIrs199422231
Exacrs199422231
Varsomers199422231
Maprs199422231
PheGenIrs199422231
hapmaprs199422231
1000 genomesrs199422231
hgdprs199422231
ensemblrs199422231
gopubmedrs199422231
geneviewrs199422231
scholarrs199422231
googlers199422231
pharmgkbrs199422231
gwascentralrs199422231
openSNPrs199422231
23andMers199422231
23andMe allrs199422231
SNP Nexus

SNPshotrs199422231
SNPdbers199422231
MSV3drs199422231
GWAS Ctlgrs199422231
Max Magnitude0
ClinVar
Risk rs199422231(T;T)
Alt rs199422231(T;T)
Reference rs199422231(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, type II, mild form Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148564528G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011243.3, RCV000180471.1,