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rs797044962

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044962(C;T)
Make rs797044962(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position114325034
GeneCHAMP1
is asnp
is mentioned by
dbSNPrs797044962
ebirs797044962
HLIrs797044962
Exacrs797044962
Varsomers797044962
Maprs797044962
PheGenIrs797044962
hapmaprs797044962
1000 genomesrs797044962
hgdprs797044962
ensemblrs797044962
gopubmedrs797044962
geneviewrs797044962
scholarrs797044962
googlers797044962
pharmgkbrs797044962
gwascentralrs797044962
openSNPrs797044962
23andMers797044962
23andMe allrs797044962
SNP Nexus

SNPshotrs797044962
SNPdbers797044962
MSV3drs797044962
GWAS Ctlgrs797044962
Max Magnitude0
ClinVar
Risk rs797044962(T;T)
Alt rs797044962(T;T)
Reference rs797044962(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.115090509C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000190452.1, RCV000192002.2,