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rs786200952

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786200952(-;-)
Make rs786200952(-;A)
Make rs786200952(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position41934340
GeneKAT6A
is asnp
is mentioned by
dbSNPrs786200952
ebirs786200952
HLIrs786200952
Exacrs786200952
Varsomers786200952
Maprs786200952
PheGenIrs786200952
hapmaprs786200952
1000 genomesrs786200952
hgdprs786200952
ensemblrs786200952
gopubmedrs786200952
geneviewrs786200952
scholarrs786200952
googlers786200952
pharmgkbrs786200952
gwascentralrs786200952
openSNPrs786200952
23andMers786200952
23andMe allrs786200952
SNP Nexus

SNPshotrs786200952
SNPdbers786200952
MSV3drs786200952
GWAS Ctlgrs786200952
Max Magnitude0
ClinVar
Risk rs786200952(A;A)
Alt rs786200952(A;A)
Reference rs786200952(;)
Significance Pathogenic
Disease Intellectual disability syndrome Mental retardation
Variation info
Gene KAT6A
CLNDBN Intellectual disability syndrome Mental retardation, autosomal dominant 32
Reversed 1
HGVS NC_000008.10:g.41791859dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000162316.1, RCV000167548.3,