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: rs11746443
rs11746443 		0.882 0.120 5 177371305 intron variant G/A snv 0.24 0.21
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.830 1.000 3 2012 2017
dbSNP: rs12654812
rs12654812 		0.925 0.120 5 177367190 intron variant G/A snv 0.34
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs4075958
rs4075958 		1.000 0.080 5 177357511 upstream gene variant G/A snv 0.21
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.800 1.000 1 2011 2011
dbSNP: rs12654812
rs12654812 		0.925 0.120 5 177367190 intron variant G/A snv 0.34
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.740 1.000 5 2013 2019
dbSNP: rs4976646
rs4976646 		0.851 0.200 5 177361569 intron variant T/C snv 0.41
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.700 1.000 2 2015 2017
dbSNP: rs4976646
rs4976646 		0.851 0.200 5 177361569 intron variant T/C snv 0.41
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 2 2015 2017
dbSNP: rs11741640
rs11741640 		5 177365742 intron variant G/A snv 0.21
CUI: C3272931
Disease: Fibroblast Growth Factor 23 Measurement
Fibroblast Growth Factor 23 Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs11746443
rs11746443 		0.882 0.120 5 177371305 intron variant G/A snv 0.24 0.21
CUI: C0156257
Disease: Calculus of kidney and ureter
Calculus of kidney and ureter 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2012 2012
dbSNP: rs11746443
rs11746443 		0.882 0.120 5 177371305 intron variant G/A snv 0.24 0.21
CUI: C0451641
Disease: Urolithiasis
Urolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2019 2019
dbSNP: rs12654812
rs12654812 		0.925 0.120 5 177367190 intron variant G/A snv 0.34
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs4074995
rs4074995 		5 177370342 intron variant G/A snv 0.23
CUI: C0202178
Disease: Phosphorus measurement
Phosphorus measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4074995
rs4074995 		5 177370342 intron variant G/A snv 0.23
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs4074995
rs4074995 		5 177370342 intron variant G/A snv 0.23
CUI: C0202159
Disease: Parathyroid hormone measurement
Parathyroid hormone measurement 		0.700 1.000 1 2017 2017
dbSNP: rs4074995
rs4074995 		5 177370342 intron variant G/A snv 0.23
CUI: C0523827
Disease: Inorganic phosphate measurement
Inorganic phosphate measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4075958
rs4075958 		1.000 0.080 5 177357511 upstream gene variant G/A snv 0.21
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs4075958
rs4075958 		1.000 0.080 5 177357511 upstream gene variant G/A snv 0.21
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs4976646
rs4976646 		0.851 0.200 5 177361569 intron variant T/C snv 0.41
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs4976646
rs4976646 		0.851 0.200 5 177361569 intron variant T/C snv 0.41
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs4976646
rs4976646 		0.851 0.200 5 177361569 intron variant T/C snv 0.41
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2019 2019
dbSNP: rs4976646
rs4976646 		0.851 0.200 5 177361569 intron variant T/C snv 0.41
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		0.700 1.000 1 2019 2019
dbSNP: rs56235845
rs56235845 		5 177371039 splice region variant T/G snv 0.36 0.42
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2016 2016
dbSNP: rs56235845
rs56235845 		5 177371039 splice region variant T/G snv 0.36 0.42
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2016 2016
dbSNP: rs6556312
rs6556312 		5 177362718 intron variant G/C;T snv
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs6556313
rs6556313 		5 177365490 intron variant A/G snv 0.41
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs12654812
rs12654812 		0.925 0.120 5 177367190 intron variant G/A snv 0.34
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.040 1.000 4 2013 2019