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rs878853164

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs878853164(G;T)
Make rs878853164(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position68157849
GeneKMT5B
is asnp
is mentioned by
dbSNPrs878853164
ebirs878853164
HLIrs878853164
Exacrs878853164
Varsomers878853164
Maprs878853164
PheGenIrs878853164
hapmaprs878853164
1000 genomesrs878853164
hgdprs878853164
ensemblrs878853164
gopubmedrs878853164
geneviewrs878853164
scholarrs878853164
googlers878853164
pharmgkbrs878853164
gwascentralrs878853164
openSNPrs878853164
23andMers878853164
23andMe allrs878853164
SNP Nexus

SNPshotrs878853164
SNPdbers878853164
MSV3drs878853164
GWAS Ctlgrs878853164
Max Magnitude0
ClinVar
Risk rs878853164(T;T)
Alt rs878853164(T;T)
Reference rs878853164(G;G)
Significance Probable-Pathogenic
Disease Delayed speech and language development Intellectual disability (moderate) Macrocephaly Muscular hypotonia Seizures
Variation info
Gene SUV420H1 KMT5B
CLNDBN Delayed speech and language development Intellectual disability (moderate) Macrocephaly Muscular hypotonia Seizures
Reversed 1
HGVS NC_000011.9:g.67925316C>A
CLNSRC
CLNACC RCV000224987.1,