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: rs114925667
rs114925667 		0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		0.800 1.000 2 2016 2016
dbSNP: rs532178791
rs532178791 		1.000 3 132665830 start lost A/G snv 1.0E-04 1.4E-05
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		0.800 1.000 2 2016 2016
dbSNP: rs886039759
rs886039759 		1.000 3 132672143 missense variant G/A snv 4.0E-06
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		0.800 1.000 2 2016 2016
dbSNP: rs886039760
rs886039760 		1.000 3 132676476 missense variant G/T snv
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		0.800 1.000 2 2016 2016
dbSNP: rs886039761
rs886039761 		1.000 3 132670973 missense variant G/A snv
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		0.800 1.000 2 2016 2016
dbSNP: rs119456963
rs119456963 		1.000 3 132688857 missense variant C/T snv 1.6E-05
CUI: C3715199
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 		0.800 0
dbSNP: rs774318611
rs774318611 		1.000 3 132665825 missense variant G/A snv
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		0.800 0
dbSNP: rs114925667
rs114925667 		0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 1.000 4 2016 2017
dbSNP: rs751527253
rs751527253 		0.827 0.240 3 132689264 splice acceptor variant CT/- del 2.6E-04
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 4 2008 2016
dbSNP: rs751527253
rs751527253 		0.827 0.240 3 132689264 splice acceptor variant CT/- del 2.6E-04
CUI: C3715199
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 		0.700 1.000 3 2008 2016
dbSNP: rs751527253
rs751527253 		0.827 0.240 3 132689264 splice acceptor variant CT/- del 2.6E-04
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 2008 2016
dbSNP: rs119456959
rs119456959 		0.925 0.080 3 132682077 inframe deletion CCT/- delins
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2003 2003
dbSNP: rs142021049
rs142021049 		1.000 0.080 3 132708219 missense variant T/C snv 1.9E-03 2.1E-03
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2003 2003
dbSNP: rs16839481
rs16839481 		3 132660153 5 prime UTR variant G/A snv 1.1E-02
CUI: C0700379
Disease: Total iron binding capacity function
Total iron binding capacity function 		0.700 1.000 1 2017 2017
dbSNP: rs16839481
rs16839481 		3 132660153 5 prime UTR variant G/A snv 1.1E-02
CUI: C1283048
Disease: Iron binding capacity total measurement
Iron binding capacity total measurement 		0.700 1.000 1 2017 2017
dbSNP: rs17348614
rs17348614 		3 132692324 intron variant C/T snv 4.4E-02
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs17348614
rs17348614 		3 132692324 intron variant C/T snv 4.4E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs1869862
rs1869862 		3 132582905 intron variant A/C snv 0.56
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs201237799
rs201237799 		1.000 0.080 3 132691199 stop gained G/A snv 4.0E-05 2.1E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2009 2009
dbSNP: rs202048210
rs202048210 		1.000 0.080 3 132683433 missense variant G/A snv 2.7E-04 1.1E-04
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2003 2003
dbSNP: rs267606916
rs267606916 		0.925 0.080 3 132696798 stop gained G/A snv 4.8E-05 1.0E-04
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2009 2009
dbSNP: rs34116314
rs34116314 		3 132656496 intron variant TT/-;T;TTT;TTTT;TTTTT;TTTTTTTTTTTT delins
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs41272321
rs41272321 		3 132619502 missense variant T/C;G snv 8.6E-06; 0.11
CUI: C4553013
Disease: Chemokine (C-C Motif) Ligand 21 Measurement
Chemokine (C-C Motif) Ligand 21 Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs41272321
rs41272321 		3 132619502 missense variant T/C;G snv 8.6E-06; 0.11
CUI: C0202202
Disease: Protein measurement
Protein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs572076167
rs572076167 		3 132716018 intron variant T/C;G snv
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018