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: rs10216063
rs10216063 		7 30875648 missense variant A/G snv 0.26 0.36
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs12669187
rs12669187 		0.925 0.120 7 30875863 intron variant G/A snv 7.2E-02
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs6975977
rs6975977 		1.000 0.080 7 30878216 intron variant G/A snv 7.3E-02
CUI: C0451641
Disease: Urolithiasis
Urolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2019 2019
dbSNP: rs12669187
rs12669187 		0.925 0.120 7 30875863 intron variant G/A snv 7.2E-02
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2013 2017
dbSNP: rs12669187
rs12669187 		0.925 0.120 7 30875863 intron variant G/A snv 7.2E-02
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2013 2017
dbSNP: rs1056328377
rs1056328377 		1.000 0.080 7 30791273 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
Nephrogenic Diabetes Insipidus, Type I 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs77743549
rs77743549 		1.000 0.080 7 30752287 missense variant A/C snv 7.6E-03 6.2E-03
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2015 2015