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rs1057516049

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TGAG;TGAG) 0 common in clinvar
Make rs1057516049(-;-)
Make rs1057516049(-;TGAG)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position41933963
GeneKAT6A
is asnp
is mentioned by
dbSNPrs1057516049
dbSNP (old)rs1057516049
ClinGenrs1057516049
ebirs1057516049
HLIrs1057516049
Exacrs1057516049
Gnomadrs1057516049
Varsomers1057516049
Maprs1057516049
PheGenIrs1057516049
Biobankrs1057516049
1000 genomesrs1057516049
hgdprs1057516049
ensemblrs1057516049
gopubmedrs1057516049
geneviewrs1057516049
scholarrs1057516049
googlers1057516049
pharmgkbrs1057516049
gwascentralrs1057516049
openSNPrs1057516049
23andMers1057516049
23andMe allrs1057516049
SNPshotrs1057516049
SNPdbers1057516049
MSV3drs1057516049
GWAS Ctlgrs1057516049
Max Magnitude0
ClinVar
Risk rs1057516049(-;-)
Alt rs1057516049(-;-)
Reference Rs1057516049(TGAG;TGAG)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene KAT6A
CLNDBN Mental retardation, autosomal dominant 32
Reversed 1
HGVS NC_000008.10:g.41791481_41791484delCTCA
CLNSRC
CLNACC RCV000408607.1,