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: rs1801528
rs1801528 		1.000 0.080 15 40206302 missense variant T/C snv 2.0E-02 8.4E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
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
dbSNP: rs759242053
rs759242053 		1.000 0.040 15 40209701 stop gained T/G snv 2.8E-05 3.5E-05
CUI: C1850343
Disease: Mosaic variegated aneuploidy syndrome 1
Mosaic variegated aneuploidy syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0