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rs786200961

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786200961(A;A)
Make rs786200961(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position41937538
GeneKAT6A
is asnp
is mentioned by
dbSNPrs786200961
ebirs786200961
HLIrs786200961
Exacrs786200961
Varsomers786200961
Maprs786200961
PheGenIrs786200961
hapmaprs786200961
1000 genomesrs786200961
hgdprs786200961
ensemblrs786200961
gopubmedrs786200961
geneviewrs786200961
scholarrs786200961
googlers786200961
pharmgkbrs786200961
gwascentralrs786200961
openSNPrs786200961
23andMers786200961
23andMe allrs786200961
SNP Nexus

SNPshotrs786200961
SNPdbers786200961
MSV3drs786200961
GWAS Ctlgrs786200961
Max Magnitude0
ClinVar
Risk rs786200961(A;A)
Alt rs786200961(A;A)
Reference rs786200961(G;G)
Significance Pathogenic
Disease Mental retardation KAT6A syndrome
Variation info
Gene KAT6A
CLNDBN Mental retardation, autosomal dominant 32 KAT6A syndrome
Reversed 0
HGVS NC_000008.10:g.41795056G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000167547.3, RCV000170451.1,