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: rs121908403
rs121908403 		0.827 0.200 19 38290215 missense variant A/G snv 2.1E-04 1.4E-04
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.820 1.000 3 2009 2018
dbSNP: rs8102476
rs8102476 		0.776 0.240 19 38244973 intron variant C/T snv 0.40
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.710 1.000 3 2009 2018
dbSNP: rs8102476
rs8102476 		0.776 0.240 19 38244973 intron variant C/T snv 0.40
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.710 1.000 2 2009 2013
dbSNP: rs11667256
rs11667256 		19 38245164 intron variant A/C;T snv
CUI: C4317009
Disease: Diverticular Diseases
Diverticular Diseases 		Digestive System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs12608697
rs12608697 		19 38275020 intron variant C/A;G snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs8102476
rs8102476 		0.776 0.240 19 38244973 intron variant C/T snv 0.40
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs112576957
rs112576957 		1.000 0.120 19 38290282 splice donor variant T/A;C snv
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121908404
rs121908404 		1.000 0.120 19 38264893 start lost A/T snv
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs606231154
rs606231154 		1.000 0.120 19 38291839 splice acceptor variant G/A snv
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs606231155
rs606231155 		1.000 0.120 19 38287937 splice donor variant T/C snv 8.0E-06
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs606231284
rs606231284 		1.000 0.120 19 38290229 missense variant G/A snv
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121908403
rs121908403 		0.827 0.200 19 38290215 missense variant A/G snv 2.1E-04 1.4E-04
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2018 2018
dbSNP: rs121908403
rs121908403 		0.827 0.200 19 38290215 missense variant A/G snv 2.1E-04 1.4E-04
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs121908403
rs121908403 		0.827 0.200 19 38290215 missense variant A/G snv 2.1E-04 1.4E-04
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2018 2018
dbSNP: rs121908403
rs121908403 		0.827 0.200 19 38290215 missense variant A/G snv 2.1E-04 1.4E-04
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2018 2018
dbSNP: rs12611084
rs12611084 		0.925 0.080 19 38255632 intron variant A/C;G;T snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs12611084
rs12611084 		0.925 0.080 19 38255632 intron variant A/C;G;T snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs12979618
rs12979618 		19 38269930 intron variant G/T snv 0.27
CUI: C0020097
Disease: HTLV-I Infections
HTLV-I Infections 		Infections; Immune System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1353175955
rs1353175955 		0.925 0.200 19 38290170 missense variant G/A snv 4.0E-06
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1353175955
rs1353175955 		0.925 0.200 19 38290170 missense variant G/A snv 4.0E-06
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs141683432
rs141683432 		0.882 0.120 19 38287929 missense variant C/T snv 1.6E-03 1.9E-03
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2005 2005
dbSNP: rs141683432
rs141683432 		0.882 0.120 19 38287929 missense variant C/T snv 1.6E-03 1.9E-03
CUI: C2931852
Disease: Clear-cell metastatic renal cell carcinoma
Clear-cell metastatic renal cell carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2005 2005
dbSNP: rs141683432
rs141683432 		0.882 0.120 19 38287929 missense variant C/T snv 1.6E-03 1.9E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs141683432
rs141683432 		0.882 0.120 19 38287929 missense variant C/T snv 1.6E-03 1.9E-03
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2005 2005
dbSNP: rs8102476
rs8102476 		0.776 0.240 19 38244973 intron variant C/T snv 0.40
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013