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rs104894952

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894952(C;T)
Make rs104894952(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position119583178
GeneUBE2A
is asnp
is mentioned by
dbSNPrs104894952
ebirs104894952
HLIrs104894952
Exacrs104894952
Varsomers104894952
Maprs104894952
PheGenIrs104894952
hapmaprs104894952
1000 genomesrs104894952
hgdprs104894952
ensemblrs104894952
gopubmedrs104894952
geneviewrs104894952
scholarrs104894952
googlers104894952
pharmgkbrs104894952
gwascentralrs104894952
openSNPrs104894952
23andMers104894952
23andMe allrs104894952
SNP Nexus

SNPshotrs104894952
SNPdbers104894952
MSV3drs104894952
GWAS Ctlgrs104894952
Max Magnitude0
OMIM312180
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894952(T;T)
Alt rs104894952(T;T)
Reference rs104894952(C;C)
Significance Pathogenic
Disease Syndromic mental retardation
Variation info
Gene UBE2A
CLNDBN Syndromic mental retardation, Nascimento type, X-linked
Reversed 0
HGVS NC_000023.10:g.118717141C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010600.3,