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: rs530391015
rs530391015 		0.882 0.080 14 104703445 stop gained G/A;C;T snv 4.0E-06
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs530391015
rs530391015 		0.882 0.080 14 104703445 stop gained G/A;C;T snv 4.0E-06
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs530391015
rs530391015 		0.882 0.080 14 104703445 stop gained G/A;C;T snv 4.0E-06
CUI: C2750475
Disease: Focal Segmental Glomerulosclerosis 5
Focal Segmental Glomerulosclerosis 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs530391015
rs530391015 		0.882 0.080 14 104703445 stop gained G/A;C;T snv 4.0E-06
CUI: C0033687
Disease: Proteinuria
Proteinuria 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs530391015
rs530391015 		0.882 0.080 14 104703445 stop gained G/A;C;T snv 4.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.700 0
dbSNP: rs201383094
rs201383094 		1.000 0.080 14 104701402 missense variant G/A snv 3.6E-04 3.3E-04
CUI: C2750475
Disease: Focal Segmental Glomerulosclerosis 5
Focal Segmental Glomerulosclerosis 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 6 2010 2014
dbSNP: rs267606877
rs267606877 		1.000 0.080 14 104703343 missense variant T/C snv
CUI: C2750475
Disease: Focal Segmental Glomerulosclerosis 5
Focal Segmental Glomerulosclerosis 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 6 2010 2014
dbSNP: rs267606878
rs267606878 		1.000 0.080 14 104703439 missense variant C/T snv
CUI: C2750475
Disease: Focal Segmental Glomerulosclerosis 5
Focal Segmental Glomerulosclerosis 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 6 2010 2014
dbSNP: rs267606879
rs267606879 		0.925 0.080 14 104703428 missense variant G/A snv 7.0E-06
CUI: C2750475
Disease: Focal Segmental Glomerulosclerosis 5
Focal Segmental Glomerulosclerosis 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 6 2010 2014
dbSNP: rs267606880
rs267606880 		1.000 0.080 14 104701490 missense variant T/C snv
CUI: C2750475
Disease: Focal Segmental Glomerulosclerosis 5
Focal Segmental Glomerulosclerosis 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 6 2010 2014
dbSNP: rs267607183
rs267607183 		0.882 0.080 14 104703440 missense variant G/A snv
CUI: C2750475
Disease: Focal Segmental Glomerulosclerosis 5
Focal Segmental Glomerulosclerosis 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 6 2010 2014
dbSNP: rs387907034
rs387907034 		1.000 14 104701675 missense variant T/C snv
CUI: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E 		0.800 1.000 5 2011 2015
dbSNP: rs387907035
rs387907035 		1.000 14 104701676 missense variant G/A;T snv
CUI: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E 		0.800 1.000 5 2011 2015
dbSNP: rs387907036
rs387907036 		1.000 14 104701677 missense variant C/G;T snv
CUI: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E 		0.800 1.000 5 2011 2015
dbSNP: rs387907037
rs387907037 		1.000 14 104701748 missense variant T/C snv
CUI: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E 		0.800 1.000 5 2011 2015
dbSNP: rs387907038
rs387907038 		1.000 14 104703108 missense variant T/G snv
CUI: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E 		0.800 1.000 5 2011 2015
dbSNP: rs1317776692
rs1317776692 		14 104701619 missense variant C/G;T snv 4.4E-06
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs267606879
rs267606879 		0.925 0.080 14 104703428 missense variant G/A snv 7.0E-06
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs267607183
rs267607183 		0.882 0.080 14 104703440 missense variant G/A snv
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs267607183
rs267607183 		0.882 0.080 14 104703440 missense variant G/A snv
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs387907037
rs387907037 		1.000 14 104701748 missense variant T/C snv
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs754313620
rs754313620 		0.925 0.080 14 104714452 missense variant T/C;G snv 7.0E-06
CUI: C1305904
Disease: Familial hematuria
Familial hematuria 		0.010 1.000 1 2018 2018
dbSNP: rs754313620
rs754313620 		0.925 0.080 14 104714452 missense variant T/C;G snv 7.0E-06
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1555373363
rs1555373363 		1.000 14 104701679 missense variant T/A snv
CUI: C3280845
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E 		0.700 0
dbSNP: rs1566777560
rs1566777560 		1.000 0.080 14 104701582 missense variant G/A snv
CUI: C2750475
Disease: Focal Segmental Glomerulosclerosis 5
Focal Segmental Glomerulosclerosis 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0