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: rs1057519305
rs1057519305
1.000 15 41816937 missense variant G/A snv
CUI: C4310640
Disease: NEPHRONOPHTHISIS 20
NEPHRONOPHTHISIS 20
0.800 0
dbSNP: rs1105881
rs1105881
15 41780332 intron variant C/G snv 0.29
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 2 2018 2019
dbSNP: rs11855017
rs11855017
15 41803948 intron variant C/A snv 0.15
CUI: C0424678
Disease: Lean body mass
Lean body mass
0.700 1.000 1 2019 2019
dbSNP: rs11855017
rs11855017
15 41803948 intron variant C/A snv 0.15
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 1 2019 2019
dbSNP: rs12440605
rs12440605
15 41810087 intron variant G/A snv 0.49
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs2695165
rs2695165
15 41781199 intron variant C/T snv 1.00 0.42
CUI: C0042834
Disease: Vital capacity
Vital capacity
0.700 1.000 1 2019 2019
dbSNP: rs4923910
rs4923910
15 41794142 intron variant G/C snv 0.34
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
0.700 1.000 1 2017 2017
dbSNP: rs7175346
rs7175346
15 41808476 intron variant G/A;C;T snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs8035855
rs8035855
15 41785763 intron variant G/A snv 0.59
CUI: C0001925
Disease: Albuminuria
Albuminuria
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1057519303
rs1057519303
1.000 15 41812609 stop gained C/T snv
CUI: C4310640
Disease: NEPHRONOPHTHISIS 20
NEPHRONOPHTHISIS 20
0.700 0
dbSNP: rs1057519304
rs1057519304
1.000 15 41825284 stop gained C/A;T snv 8.0E-06
CUI: C4310640
Disease: NEPHRONOPHTHISIS 20
NEPHRONOPHTHISIS 20
0.700 0
dbSNP: rs1057519306
rs1057519306
1.000 15 41819594 splice acceptor variant G/A snv
CUI: C4310640
Disease: NEPHRONOPHTHISIS 20
NEPHRONOPHTHISIS 20
0.700 0
dbSNP: rs202001274
rs202001274
1.000 15 41815388 stop gained C/G;T snv 4.0E-06; 8.0E-06
CUI: C4310640
Disease: NEPHRONOPHTHISIS 20
NEPHRONOPHTHISIS 20
0.700 0
dbSNP: rs752616462
rs752616462
1.000 15 41821674 stop gained C/G;T snv 4.0E-06
CUI: C4310640
Disease: NEPHRONOPHTHISIS 20
NEPHRONOPHTHISIS 20
0.700 0