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rs387906728

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906728(A;A)
Make rs387906728(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position119574743
GeneUBE2A
is asnp
is mentioned by
dbSNPrs387906728
ebirs387906728
HLIrs387906728
Exacrs387906728
Varsomers387906728
Maprs387906728
PheGenIrs387906728
hapmaprs387906728
1000 genomesrs387906728
hgdprs387906728
ensemblrs387906728
gopubmedrs387906728
geneviewrs387906728
scholarrs387906728
googlers387906728
pharmgkbrs387906728
gwascentralrs387906728
openSNPrs387906728
23andMers387906728
23andMe allrs387906728
SNP Nexus

SNPshotrs387906728
SNPdbers387906728
MSV3drs387906728
GWAS Ctlgrs387906728
Max Magnitude0
ClinVar
Risk rs387906728(A;A)
Alt rs387906728(A;A)
Reference rs387906728(G;G)
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.118708706G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022886.3,