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rs1060501153

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(ACTA;ACTA) 0 common in clinvar
Make rs1060501153(-;-)
Make rs1060501153(-;AACT)
Make rs1060501153(AACT;AACT)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position148470242
GeneMBD5
is asnp
is mentioned by
dbSNPrs1060501153
dbSNP (old)rs1060501153
ClinGenrs1060501153
ebirs1060501153
HLIrs1060501153
Exacrs1060501153
Gnomadrs1060501153
Varsomers1060501153
Maprs1060501153
PheGenIrs1060501153
Biobankrs1060501153
1000 genomesrs1060501153
hgdprs1060501153
ensemblrs1060501153
gopubmedrs1060501153
geneviewrs1060501153
scholarrs1060501153
googlers1060501153
pharmgkbrs1060501153
gwascentralrs1060501153
openSNPrs1060501153
23andMers1060501153
23andMe allrs1060501153
SNPshotrs1060501153
SNPdbers1060501153
MSV3drs1060501153
GWAS Ctlgrs1060501153
Max Magnitude0
ClinVar
Risk rs1060501153(-;-)
Alt rs1060501153(-;-)
Reference Rs1060501153(ACTA;ACTA)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene MBD5
CLNDBN Mental retardation, autosomal dominant 1
Reversed 0
HGVS NC_000002.11:g.149227811_149227814delAACT
CLNSRC
CLNACC RCV000459819.1,