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rs786200960

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786200960(A;A)
Make rs786200960(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position41934835
GeneKAT6A
is asnp
is mentioned by
dbSNPrs786200960
ebirs786200960
HLIrs786200960
Exacrs786200960
Varsomers786200960
Maprs786200960
PheGenIrs786200960
hapmaprs786200960
1000 genomesrs786200960
hgdprs786200960
ensemblrs786200960
gopubmedrs786200960
geneviewrs786200960
scholarrs786200960
googlers786200960
pharmgkbrs786200960
gwascentralrs786200960
openSNPrs786200960
23andMers786200960
23andMe allrs786200960
SNP Nexus

SNPshotrs786200960
SNPdbers786200960
MSV3drs786200960
GWAS Ctlgrs786200960
Max Magnitude0
ClinVar
Risk rs786200960(A;A)
Alt rs786200960(A;A)
Reference rs786200960(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.41792353G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000167546.3, RCV000170450.1,