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rs869312962

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs869312962(-;A)
Make rs869312962(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position75022122
GeneKAT6B
is asnp
is mentioned by
dbSNPrs869312962
dbSNP (classic)rs869312962
ClinGenrs869312962
ebirs869312962
HLIrs869312962
Exacrs869312962
Gnomadrs869312962
Varsomers869312962
LitVarrs869312962
Maprs869312962
PheGenIrs869312962
Biobankrs869312962
1000 genomesrs869312962
hgdprs869312962
ensemblrs869312962
geneviewrs869312962
scholarrs869312962
googlers869312962
pharmgkbrs869312962
gwascentralrs869312962
openSNPrs869312962
23andMers869312962
SNPshotrs869312962
SNPdbers869312962
MSV3drs869312962
GWAS Ctlgrs869312962
Max Magnitude0
ClinVar
Risk rs869312962(A;A)
Alt rs869312962(A;A)
Reference Rs869312962(-;-)
Significance Pathogenic
Disease Inborn genetic diseases
Variation info
Gene KAT6B
CLNDBN Inborn genetic diseases
Reversed 0
HGVS NC_000010.10:g.76781880dupA
CLNSRC
CLNACC RCV000210551.1,