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: rs28989181
rs28989181 		0.925 0.040 15 40212643 missense variant C/T snv 8.0E-06 2.1E-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: 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: 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
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
dbSNP: rs28989187
rs28989187 		1.000 0.040 15 40202609 missense variant G/A snv 1.6E-03 4.8E-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: rs1392909108
rs1392909108 		0.925 0.040 15 40209697 frameshift variant -/GTTA delins 4.0E-06
CUI: C1850343
Disease: Mosaic variegated aneuploidy syndrome 1
Mosaic variegated aneuploidy syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1401171363
rs1401171363 		1.000 0.040 15 40206403 stop gained C/T snv 4.0E-06
CUI: C1850343
Disease: Mosaic variegated aneuploidy syndrome 1
Mosaic variegated aneuploidy syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1566824608
rs1566824608 		1.000 0.040 15 40199713 stop gained A/T snv
CUI: C1850343
Disease: Mosaic variegated aneuploidy syndrome 1
Mosaic variegated aneuploidy syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1566824771
rs1566824771 		0.925 0.040 15 40200239 splice region variant A/G snv
CUI: C1850343
Disease: Mosaic variegated aneuploidy syndrome 1
Mosaic variegated aneuploidy syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1566824774
rs1566824774 		0.925 0.040 15 40200243 splice acceptor variant G/T snv
CUI: C1850343
Disease: Mosaic variegated aneuploidy syndrome 1
Mosaic variegated aneuploidy syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1566826570
rs1566826570 		0.925 0.040 15 40206280 frameshift variant T/- delins
CUI: C1850343
Disease: Mosaic variegated aneuploidy syndrome 1
Mosaic variegated aneuploidy syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs28989186
rs28989186 		0.925 0.040 15 40176672 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C1850343
Disease: Mosaic variegated aneuploidy syndrome 1
Mosaic variegated aneuploidy syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs750364303
rs750364303 		1.000 0.040 15 40210133 stop gained C/T snv 2.0E-05 7.0E-06
CUI: C1850343
Disease: Mosaic variegated aneuploidy syndrome 1
Mosaic variegated aneuploidy syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs751421137
rs751421137 		0.925 0.040 15 40212488 intron variant A/G snv 2.0E-05 2.8E-05
CUI: C1850343
Disease: Mosaic variegated aneuploidy syndrome 1
Mosaic variegated aneuploidy syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 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
dbSNP: rs767213728
rs767213728 		1.000 0.040 15 40202608 stop gained C/T snv 4.0E-06 2.1E-05
CUI: C1850343
Disease: Mosaic variegated aneuploidy syndrome 1
Mosaic variegated aneuploidy syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs769350713
rs769350713 		1.000 0.040 15 40170637 stop gained C/T snv 1.6E-05
CUI: C1850343
Disease: Mosaic variegated aneuploidy syndrome 1
Mosaic variegated aneuploidy syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0