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rs199470478

From SNPedia

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,