Have questions? Visit https://www.reddit.com/r/SNPedia

rs796052719

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs796052719(-;-)
Make rs796052719(-;TA)
Make rs796052719(TA;TA)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position148468833
GeneMBD5
is asnp
is mentioned by
dbSNPrs796052719
dbSNP (classic)rs796052719
ClinGenrs796052719
ebirs796052719
HLIrs796052719
Exacrs796052719
Gnomadrs796052719
Varsomers796052719
LitVarrs796052719
Maprs796052719
PheGenIrs796052719
Biobankrs796052719
1000 genomesrs796052719
hgdprs796052719
ensemblrs796052719
geneviewrs796052719
scholarrs796052719
googlers796052719
pharmgkbrs796052719
gwascentralrs796052719
openSNPrs796052719
23andMers796052719
SNPshotrs796052719
SNPdbers796052719
MSV3drs796052719
GWAS Ctlgrs796052719
Max Magnitude0
ClinVar
Risk rs796052719(-;-)
Alt rs796052719(-;-)
Reference Rs796052719(AT;AT)
Significance Pathogenic
Disease not provided Mental retardation
Variation info
Gene MBD5
CLNDBN not provided Mental retardation, autosomal dominant 1
Reversed 0
HGVS NC_000002.11:g.149226402_149226403delTA
CLNSRC
CLNACC RCV000188124.1, RCV000258468.1,