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: rs765676223
rs765676223 		0.925 0.200 9 123371542 missense variant C/A;G;T snv 1.6E-05; 2.3E-04
CUI: C1857423
Disease: Cystic Kidney Disease with Ventriculomegaly
Cystic Kidney Disease with Ventriculomegaly 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.800 1.000 1 2015 2015
dbSNP: rs879255250
rs879255250 		1.000 9 123370912 missense variant G/A;C snv
CUI: C4015555
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9 		0.800 1.000 1 2015 2015
dbSNP: rs879255252
rs879255252 		1.000 9 123370939 missense variant G/C snv
CUI: C4015555
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9 		0.800 1.000 1 2015 2015
dbSNP: rs202128397
rs202128397 		0.882 0.080 9 123370935 missense variant C/T snv 1.2E-05
CUI: C4015555
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9 		0.800 0
dbSNP: rs730880300
rs730880300 		1.000 0.120 9 123371070 missense variant A/C snv 1.0E-04 3.5E-05
CUI: C1857423
Disease: Cystic Kidney Disease with Ventriculomegaly
Cystic Kidney Disease with Ventriculomegaly 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.800 0
dbSNP: rs730880377
rs730880377 		1.000 0.120 9 123370950 missense variant C/G;T snv 4.1E-06; 4.1E-06
CUI: C1857423
Disease: Cystic Kidney Disease with Ventriculomegaly
Cystic Kidney Disease with Ventriculomegaly 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.800 0
dbSNP: rs202128397
rs202128397 		0.882 0.080 9 123370935 missense variant C/T snv 1.2E-05
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.710 1.000 1 2018 2018
dbSNP: rs1105223
rs1105223 		9 123365932 missense variant T/C;G snv 0.36; 8.8E-06
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2018 2018
dbSNP: rs147412276
rs147412276 		1.000 9 123376950 missense variant G/A;C snv 1.4E-03
CUI: C4015555
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9 		0.700 0
dbSNP: rs375072557
rs375072557 		0.925 0.200 9 123371419 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C1857423
Disease: Cystic Kidney Disease with Ventriculomegaly
Cystic Kidney Disease with Ventriculomegaly 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs879255251
rs879255251 		0.925 0.080 9 123373609 frameshift variant GGCCCGGCGCGGCCCC/-;GGCCCGGCGCGGCCCCGGCCCGGCGCGGCCCC delins
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs879255251
rs879255251 		0.925 0.080 9 123373609 frameshift variant GGCCCGGCGCGGCCCC/-;GGCCCGGCGCGGCCCCGGCCCGGCGCGGCCCC delins
CUI: C4015555
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9 		0.700 0
dbSNP: rs202128397
rs202128397 		0.882 0.080 9 123370935 missense variant C/T snv 1.2E-05
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs375072557
rs375072557 		0.925 0.200 9 123371419 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C1513269
Disease: Microcysts
Microcysts 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs765676223
rs765676223 		0.925 0.200 9 123371542 missense variant C/A;G;T snv 1.6E-05; 2.3E-04
CUI: C1513269
Disease: Microcysts
Microcysts 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs776031963
rs776031963 		1.000 0.160 9 123371433 missense variant G/A snv 2.0E-05 2.1E-05
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019