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rs797044961

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044961(-;-)
Make rs797044961(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position114324477
GeneCHAMP1
is asnp
is mentioned by
dbSNPrs797044961
dbSNP (old)rs797044961
ClinGenrs797044961
ebirs797044961
HLIrs797044961
Exacrs797044961
Gnomadrs797044961
Varsomers797044961
Maprs797044961
PheGenIrs797044961
Biobankrs797044961
1000 genomesrs797044961
hgdprs797044961
ensemblrs797044961
gopubmedrs797044961
geneviewrs797044961
scholarrs797044961
googlers797044961
pharmgkbrs797044961
gwascentralrs797044961
openSNPrs797044961
23andMers797044961
23andMe allrs797044961
SNP Nexus

SNPshotrs797044961
SNPdbers797044961
MSV3drs797044961
GWAS Ctlgrs797044961
Max Magnitude0
ClinVar
Risk rs797044961(-;-)
Alt rs797044961(-;-)
Reference Rs797044961(C;C)
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.115089952delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000190451.2, RCV000192003.4,