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: rs368572297
rs368572297 		1.000 17 75235641 missense variant C/T snv 3.2E-05 7.0E-05
CUI: C4748545
Disease: NEPHROTIC SYNDROME, TYPE 17
NEPHROTIC SYNDROME, TYPE 17 		0.800 1.000 1 2018 2018
dbSNP: rs1005714
rs1005714 		1.000 0.040 17 75228544 5 prime UTR variant G/C snv 0.78
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1321552081
rs1321552081 		1.000 17 75234762 missense variant G/A;C snv 7.0E-06
CUI: C4748545
Disease: NEPHROTIC SYNDROME, TYPE 17
NEPHROTIC SYNDROME, TYPE 17 		0.700 1.000 1 2018 2018
dbSNP: rs9988
rs9988 		17 75234761 synonymous variant C/T snv 0.86 0.85
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs776324450
rs776324450 		1.000 0.080 17 75239434 missense variant G/A;T snv 4.7E-06; 4.7E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs52809447
rs52809447 		1.000 0.040 17 75242427 missense variant T/C snv 7.3E-03 7.9E-03
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder 		Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs78338345
rs78338345 		1.000 0.080 17 75242428 missense variant C/G snv 7.7E-03 2.5E-03
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs78338345
rs78338345 		1.000 0.080 17 75242428 missense variant C/G snv 7.7E-03 2.5E-03
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019