Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387907116
rs387907116
DIS3L2
1.000 0.240 2 232263247 missense variant G/A snv
CUI: C0796113
Disease: Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor 		0.800 1.000 0 2012 2017
dbSNP: rs1060503037
rs1060503037
DIS3L2
1.000 0.240 2 232333839 splice acceptor variant G/C snv
CUI: C0796113
Disease: Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor 		0.700 0
dbSNP: rs1553551874
rs1553551874
DIS3L2
1.000 0.160 2 232334720 frameshift variant GC/- delins
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.700 0
dbSNP: rs1553610371
rs1553610371
DIS3L2
1.000 0.240 2 232136568 frameshift variant CT/- del
CUI: C0796113
Disease: Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor 		0.700 0
dbSNP: rs199648534
rs199648534
DIS3L2
1.000 0.240 2 232136502 stop gained C/T snv 4.0E-06
CUI: C0796113
Disease: Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor 		0.700 0
dbSNP: rs878855224
rs878855224
DIS3L2
1.000 0.240 2 232334479 frameshift variant T/- delins
CUI: C0796113
Disease: Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor 		0.700 0