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rs794727928

From SNPedia

Orientationplus
Geno Mag Summary
(CATAAAAG;CATAAAAG) 0 common in clinvar
Make rs794727928(-;-)
Make rs794727928(-;AAAAGCAT)
Make rs794727928(AAAAGCAT;AAAAGCAT)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position148463862
GeneMBD5
is asnp
is mentioned by
dbSNPrs794727928
ebirs794727928
HLIrs794727928
Exacrs794727928
Varsomers794727928
Maprs794727928
PheGenIrs794727928
hapmaprs794727928
1000 genomesrs794727928
hgdprs794727928
ensemblrs794727928
gopubmedrs794727928
geneviewrs794727928
scholarrs794727928
googlers794727928
pharmgkbrs794727928
gwascentralrs794727928
openSNPrs794727928
23andMers794727928
23andMe allrs794727928
SNP Nexus

SNPshotrs794727928
SNPdbers794727928
MSV3drs794727928
GWAS Ctlgrs794727928
Max Magnitude0
ClinVar
Risk rs794727928(;)
Alt rs794727928(;)
Reference rs794727928(CATAAAAG;CATAAAAG)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene MBD5
CLNDBN Mental retardation, autosomal dominant 1
Reversed 0
HGVS NC_000002.11:g.149221431_149221438delAAAAGCAT
CLNSRC
CLNACC RCV000180349.1,