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

rs797044963

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AC;AC) 0 common in clinvar
Make rs797044963(-;-)
Make rs797044963(-;CA)
Make rs797044963(CA;CA)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position114325708
GeneCHAMP1
is asnp
is mentioned by
dbSNPrs797044963
dbSNP (old)rs797044963
ClinGenrs797044963
ebirs797044963
HLIrs797044963
Exacrs797044963
Varsomers797044963
Maprs797044963
PheGenIrs797044963
Biobankrs797044963
1000 genomesrs797044963
hgdprs797044963
ensemblrs797044963
gopubmedrs797044963
geneviewrs797044963
scholarrs797044963
googlers797044963
pharmgkbrs797044963
gwascentralrs797044963
openSNPrs797044963
23andMers797044963
23andMe allrs797044963
SNP Nexus

SNPshotrs797044963
SNPdbers797044963
MSV3drs797044963
GWAS Ctlgrs797044963
Max Magnitude0
ClinVar
Risk rs797044963(-;-)
Alt rs797044963(-;-)
Reference Rs797044963(AC;AC)
Significance Pathogenic
Disease intellectual disability with severe speech impairment Mental retardation
Variation info
Gene CHAMP1
CLNDBN intellectual disability with severe speech impairment Mental retardation, autosomal dominant 40
Reversed 0
HGVS NC_000013.10:g.115091183_115091184delCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000190454.1, RCV000192000.3,