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rs199470478

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GAAAACCAG;GAAAACCAG) 0 common in clinvar
Make rs199470478(AAAAACCAAAA;AAAAACCAAAA)
Make rs199470478(AAAAACCAAAA;GAAAACCAG)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position75029184
GeneDUPD1, KAT6B
is asnp
is mentioned by
dbSNPrs199470478
dbSNP (old)rs199470478
ClinGenrs199470478
ebirs199470478
HLIrs199470478
Exacrs199470478
Varsomers199470478
Maprs199470478
PheGenIrs199470478
Biobankrs199470478
1000 genomesrs199470478
hgdprs199470478
ensemblrs199470478
gopubmedrs199470478
geneviewrs199470478
scholarrs199470478
googlers199470478
pharmgkbrs199470478
gwascentralrs199470478
openSNPrs199470478
23andMers199470478
23andMe allrs199470478
SNP Nexus

SNPshotrs199470478
SNPdbers199470478
MSV3drs199470478
GWAS Ctlgrs199470478
Max Magnitude0
ClinVar
Risk rs199470478(AAAAACCAAAA;AAAAACCAAAA)
Alt rs199470478(AAAAACCAAAA;AAAAACCAAAA)
Reference Rs199470478(GAAAACCAG;GAAAACCAG)
Significance Pathogenic
Disease Genitopatellar syndrome not provided
Variation info
Gene KAT6B
CLNDBN Genitopatellar syndrome not provided
Reversed 0
HGVS NC_000010.10:g.76788942_76788950delGAAAACCAGinsAAAAACCAAAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000023486.4, RCV000128653.1,