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rs200070245

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200070245(A;A)
Make rs200070245(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position114325610
GeneCHAMP1
is asnp
is mentioned by
dbSNPrs200070245
ebirs200070245
HLIrs200070245
Exacrs200070245
Varsomers200070245
Maprs200070245
PheGenIrs200070245
hapmaprs200070245
1000 genomesrs200070245
hgdprs200070245
ensemblrs200070245
gopubmedrs200070245
geneviewrs200070245
scholarrs200070245
googlers200070245
pharmgkbrs200070245
gwascentralrs200070245
openSNPrs200070245
23andMers200070245
23andMe allrs200070245
SNP Nexus

SNPshotrs200070245
SNPdbers200070245
MSV3drs200070245
GWAS Ctlgrs200070245
Max Magnitude0
ClinVar
Risk rs200070245(A;A)
Alt rs200070245(A;A)
Reference rs200070245(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.115091085C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000190453.1, RCV000192001.2,