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rs786200959

From SNPedia

Orientationminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs786200959(-;-)
Make rs786200959(-;CT)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position41937491
GeneKAT6A
is asnp
is mentioned by
dbSNPrs786200959
ebirs786200959
HLIrs786200959
Exacrs786200959
Varsomers786200959
Maprs786200959
PheGenIrs786200959
hapmaprs786200959
1000 genomesrs786200959
hgdprs786200959
ensemblrs786200959
gopubmedrs786200959
geneviewrs786200959
scholarrs786200959
googlers786200959
pharmgkbrs786200959
gwascentralrs786200959
openSNPrs786200959
23andMers786200959
23andMe allrs786200959
SNP Nexus

SNPshotrs786200959
SNPdbers786200959
MSV3drs786200959
GWAS Ctlgrs786200959
Max Magnitude0
ClinVar
Risk rs786200959(;)
Alt rs786200959(;)
Reference rs786200959(CT;CT)
Significance Pathogenic
Disease Mental retardation Intellectual disability syndrome
Variation info
Gene KAT6A
CLNDBN Mental retardation, autosomal dominant 32 Intellectual disability syndrome
Reversed 1
HGVS NC_000008.10:g.41795009_41795010delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000167549.3, RCV000170449.1,