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rs104894861

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894861(A;G)
Make rs104894861(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position149503326
GeneIDS
is asnp
is mentioned by
dbSNPrs104894861
ebirs104894861
HLIrs104894861
Exacrs104894861
Varsomers104894861
Maprs104894861
PheGenIrs104894861
hapmaprs104894861
1000 genomesrs104894861
hgdprs104894861
ensemblrs104894861
gopubmedrs104894861
geneviewrs104894861
scholarrs104894861
googlers104894861
pharmgkbrs104894861
gwascentralrs104894861
openSNPrs104894861
23andMers104894861
23andMe allrs104894861
SNP Nexus

SNPshotrs104894861
SNPdbers104894861
MSV3drs104894861
GWAS Ctlgrs104894861
Merged fromRs28937311
Max Magnitude0
OMIM300823
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894861(G;G)
Alt rs104894861(G;G)
Reference rs104894861(A;A)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148584856T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011240.7,