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: rs28989182
rs28989182 		1.000 0.040 15 40212554 missense variant G/A snv 8.0E-06 1.4E-05
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