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

rs398122412

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398122412(-;-)
Make rs398122412(-;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position148462618
GeneMBD5
is asnp
is mentioned by
dbSNPrs398122412
dbSNP (classic)rs398122412
ClinGenrs398122412
ebirs398122412
HLIrs398122412
Exacrs398122412
Gnomadrs398122412
Varsomers398122412
LitVarrs398122412
Maprs398122412
PheGenIrs398122412
Biobankrs398122412
1000 genomesrs398122412
hgdprs398122412
ensemblrs398122412
geneviewrs398122412
scholarrs398122412
googlers398122412
pharmgkbrs398122412
gwascentralrs398122412
openSNPrs398122412
23andMers398122412
SNPshotrs398122412
SNPdbers398122412
MSV3drs398122412
GWAS Ctlgrs398122412
Max Magnitude0
ClinVar
Risk rs398122412(-;-)
Alt rs398122412(-;-)
Reference Rs398122412(T;T)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene MBD5
CLNDBN Mental retardation, autosomal dominant 1
Reversed 0
HGVS NC_000002.11:g.149220187delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000074465.3,