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rs138944476

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs138944476(C;T)
Make rs138944476(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position41934112
GeneKAT6A
is asnp
is mentioned by
dbSNPrs138944476
ebirs138944476
HLIrs138944476
Exacrs138944476
Varsomers138944476
Maprs138944476
PheGenIrs138944476
hapmaprs138944476
1000 genomesrs138944476
hgdprs138944476
ensemblrs138944476
gopubmedrs138944476
geneviewrs138944476
scholarrs138944476
googlers138944476
pharmgkbrs138944476
gwascentralrs138944476
openSNPrs138944476
23andMers138944476
23andMe allrs138944476
SNP Nexus

SNPshotrs138944476
SNPdbers138944476
MSV3drs138944476
GWAS Ctlgrs138944476
Max Magnitude0
ClinVar
Risk rs138944476(A,T;A,T)
Alt rs138944476(A,T;A,T)
Reference rs138944476(C;C)
Significance Pathogenic
Disease Mental retardation not provided
Variation info
Gene KAT6A
CLNDBN Mental retardation, autosomal dominant 32 not provided
Reversed 0
HGVS NC_000008.10:g.41791630C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000167550.3, RCV000169643.2,