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rs199470468

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199470468(-;-)
Make rs199470468(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position75021282
GeneKAT6B
is asnp
is mentioned by
dbSNPrs199470468
ebirs199470468
HLIrs199470468
Exacrs199470468
Varsomers199470468
Maprs199470468
PheGenIrs199470468
hapmaprs199470468
1000 genomesrs199470468
hgdprs199470468
ensemblrs199470468
gopubmedrs199470468
geneviewrs199470468
scholarrs199470468
googlers199470468
pharmgkbrs199470468
gwascentralrs199470468
openSNPrs199470468
23andMers199470468
23andMe allrs199470468
SNP Nexus

SNPshotrs199470468
SNPdbers199470468
MSV3drs199470468
GWAS Ctlgrs199470468
Max Magnitude0
ClinVar
Risk rs199470468(;)
Alt rs199470468(;)
Reference rs199470468(A;A)
Significance Pathogenic
Disease Young Simpson syndrome not provided
Variation info
Gene KAT6B
CLNDBN Young Simpson syndrome not provided
Reversed 0
HGVS NC_000010.10:g.76781040delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000023484.4, RCV000128643.1,