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: 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: rs1566831710
rs1566831710 		1.000 0.120 15 40220577 stop gained G/T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
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: rs28989185
rs28989185 		0.925 0.040 15 40220641 missense variant T/C snv 2.8E-05 1.4E-05
CUI: C1864389
Disease: PREMATURE CHROMATID SEPARATION TRAIT
PREMATURE CHROMATID SEPARATION TRAIT 		0.700 0