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rs199470472

From SNPedia

Orientationplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs199470472(-;-)
Make rs199470472(-;AA)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position75028612
GeneKAT6B, LOC105378361
is asnp
is mentioned by
dbSNPrs199470472
ebirs199470472
HLIrs199470472
Exacrs199470472
Varsomers199470472
Maprs199470472
PheGenIrs199470472
hapmaprs199470472
1000 genomesrs199470472
hgdprs199470472
ensemblrs199470472
gopubmedrs199470472
geneviewrs199470472
scholarrs199470472
googlers199470472
pharmgkbrs199470472
gwascentralrs199470472
openSNPrs199470472
23andMers199470472
23andMe allrs199470472
SNP Nexus

SNPshotrs199470472
SNPdbers199470472
MSV3drs199470472
GWAS Ctlgrs199470472
Max Magnitude0
ClinVar
Risk rs199470472(;)
Alt rs199470472(;)
Reference rs199470472(AA;AA)
Significance Pathogenic
Disease Genitopatellar syndrome not provided
Variation info
Gene KAT6B
CLNDBN Genitopatellar syndrome not provided
Reversed 0
HGVS NC_000010.10:g.76788370_76788371delAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000023488.5, RCV000128647.1,