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rs140630794

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs140630794(A;C)
Make rs140630794(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position36397429
GeneCHAF1B
is asnp
is mentioned by
dbSNPrs140630794
dbSNP (classic)rs140630794
ClinGenrs140630794
ebirs140630794
HLIrs140630794
Exacrs140630794
Gnomadrs140630794
Varsomers140630794
LitVarrs140630794
Maprs140630794
PheGenIrs140630794
Biobankrs140630794
1000 genomesrs140630794
hgdprs140630794
ensemblrs140630794
geneviewrs140630794
scholarrs140630794
googlers140630794
pharmgkbrs140630794
gwascentralrs140630794
openSNPrs140630794
23andMers140630794
SNPshotrs140630794
SNPdbers140630794
MSV3drs140630794
GWAS Ctlgrs140630794
Max Magnitude0
ClinVar
Risk rs140630794(C;C) rs140630794(G;G)
Alt rs140630794(C;C) rs140630794(G;G)
Reference Rs140630794(A;A)
Significance Probable-Pathogenic
Disease Attention deficit hyperactivity disorder Global developmental delay Intellectual disability
Variation info
Gene CHAF1B
CLNDBN Attention deficit hyperactivity disorder Global developmental delay Intellectual disability
Reversed 0
HGVS NC_000021.8:g.37769727A>G
CLNSRC
CLNACC RCV000162182.1,