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rs387907364

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TACTATGG;TACTATGG) 0 common in clinvar
Make rs387907364(CACA;CACA)
Make rs387907364(CACA;TACTATGG)
ReferenceGRCh38 38.1/141
Chromosome10
Position75029888
GeneKAT6B
is asnp
is mentioned by
dbSNPrs387907364
ebirs387907364
HLIrs387907364
Exacrs387907364
Varsomers387907364
Maprs387907364
PheGenIrs387907364
hapmaprs387907364
1000 genomesrs387907364
hgdprs387907364
ensemblrs387907364
gopubmedrs387907364
geneviewrs387907364
scholarrs387907364
googlers387907364
pharmgkbrs387907364
gwascentralrs387907364
openSNPrs387907364
23andMers387907364
23andMe allrs387907364
SNP Nexus

SNPshotrs387907364
SNPdbers387907364
MSV3drs387907364
GWAS Ctlgrs387907364
Max Magnitude0
ClinVar
Risk rs387907364(CACA;CACA)
Alt rs387907364(CACA;CACA)
Reference rs387907364(TACTATGG;TACTATGG)
Significance Pathogenic
Disease Young Simpson syndrome
Variation info
Gene KAT6B
CLNDBN Young Simpson syndrome
Reversed 0
HGVS NC_000010.10:g.76789646_76789653delTACTATGGinsCACA
CLNSRC OMIM Allelic Variant
CLNACC RCV000043511.4,