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rs782397980

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs782397980(C;T)
Make rs782397980(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position114325331
GeneCHAMP1
is asnp
is mentioned by
dbSNPrs782397980
ebirs782397980
HLIrs782397980
Exacrs782397980
Varsomers782397980
Maprs782397980
PheGenIrs782397980
hapmaprs782397980
1000 genomesrs782397980
hgdprs782397980
ensemblrs782397980
gopubmedrs782397980
geneviewrs782397980
scholarrs782397980
googlers782397980
pharmgkbrs782397980
gwascentralrs782397980
openSNPrs782397980
23andMers782397980
23andMe allrs782397980
SNP Nexus

SNPshotrs782397980
SNPdbers782397980
MSV3drs782397980
GWAS Ctlgrs782397980
Max Magnitude0
ClinVar
Risk rs782397980(G,T;G,T)
Alt rs782397980(G,T;G,T)
Reference rs782397980(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene CHAMP1
CLNDBN Mental retardation, autosomal dominant 40
Reversed 0
HGVS NC_000013.10:g.115090806C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000191999.2,