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rs104894860

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894860(C;T)
Make rs104894860(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position149498301
GeneIDS
is asnp
is mentioned by
dbSNPrs104894860
ebirs104894860
HLIrs104894860
Exacrs104894860
Varsomers104894860
Maprs104894860
PheGenIrs104894860
hapmaprs104894860
1000 genomesrs104894860
hgdprs104894860
ensemblrs104894860
gopubmedrs104894860
geneviewrs104894860
scholarrs104894860
googlers104894860
pharmgkbrs104894860
gwascentralrs104894860
openSNPrs104894860
23andMers104894860
23andMe allrs104894860
SNP Nexus

SNPshotrs104894860
SNPdbers104894860
MSV3drs104894860
GWAS Ctlgrs104894860
Max Magnitude0
OMIM300823
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894860(A,T;A,T)
Alt rs104894860(A,T;A,T)
Reference rs104894860(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148579832G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011236.7,