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rs878853160

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs878853160(A;G)
Make rs878853160(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position40046007
GeneCDK13
is asnp
is mentioned by
dbSNPrs878853160
ebirs878853160
HLIrs878853160
Exacrs878853160
Varsomers878853160
Maprs878853160
PheGenIrs878853160
hapmaprs878853160
1000 genomesrs878853160
hgdprs878853160
ensemblrs878853160
gopubmedrs878853160
geneviewrs878853160
scholarrs878853160
googlers878853160
pharmgkbrs878853160
gwascentralrs878853160
openSNPrs878853160
23andMers878853160
23andMe allrs878853160
SNP Nexus

SNPshotrs878853160
SNPdbers878853160
MSV3drs878853160
GWAS Ctlgrs878853160
Max Magnitude0
ClinVar
Risk rs878853160(G;G)
Alt rs878853160(G;G)
Reference rs878853160(A;A)
Significance Pathogenic
Disease Abnormal facial shape Delayed speech and language development Failure to thrive Intellectual disability (moderate) Muscular hypotonia
Variation info
Gene CDK13
CLNDBN Abnormal facial shape Delayed speech and language development Failure to thrive Intellectual disability (moderate) Muscular hypotonia
Reversed 0
HGVS NC_000007.13:g.40085606A>G
CLNSRC
CLNACC RCV000224970.1,