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

rs869312689

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869312689(C;C)
Make rs869312689(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position244053934
GeneZBTB18
is asnp
is mentioned by
dbSNPrs869312689
dbSNP (classic)rs869312689
ClinGenrs869312689
ebirs869312689
HLIrs869312689
Exacrs869312689
Gnomadrs869312689
Varsomers869312689
LitVarrs869312689
Maprs869312689
PheGenIrs869312689
Biobankrs869312689
1000 genomesrs869312689
hgdprs869312689
ensemblrs869312689
geneviewrs869312689
scholarrs869312689
googlers869312689
pharmgkbrs869312689
gwascentralrs869312689
openSNPrs869312689
23andMers869312689
SNPshotrs869312689
SNPdbers869312689
MSV3drs869312689
GWAS Ctlgrs869312689
Max Magnitude0
ClinVar
Risk rs869312689(C;C)
Alt rs869312689(C;C)
Reference Rs869312689(T;T)
Significance Probable-Pathogenic
Disease Mental retardation
Variation info
Gene ZBTB18
CLNDBN Mental retardation, autosomal dominant 22
Reversed 0
HGVS NC_000001.10:g.244217236T>C
CLNSRC
CLNACC RCV000209846.1,