BUB1B-PAK6, BUB1B-PAK6 readthrough, 106821730

N. diseases: 8; N. variants: 8
Disease: Mosaic variegated aneuploidy syndrome 1 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28989185
rs28989185 		0.925 0.040 15 40220641 missense variant T/C snv 2.8E-05 1.4E-05
CUI: C1850343
Disease: Mosaic variegated aneuploidy syndrome 1
Mosaic variegated aneuploidy syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 1 2004 2004
dbSNP: rs28989183
rs28989183 		1.000 0.040 15 40217580 missense variant G/C snv 1.4E-04 2.9E-04
CUI: C1850343
Disease: Mosaic variegated aneuploidy syndrome 1
Mosaic variegated aneuploidy syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2004 2004
dbSNP: rs28989184
rs28989184 		1.000 0.040 15 40217543 missense variant T/C snv
CUI: C1850343
Disease: Mosaic variegated aneuploidy syndrome 1
Mosaic variegated aneuploidy syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2004 2004