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: rs267607109
rs267607109 		0.827 0.160 5 136056754 missense variant C/A snv
CUI: C2939149
Disease: Amyloid of cornea
Amyloid of cornea 		0.040 0.750 4 2004 2007
dbSNP: rs121909210
rs121909210 		0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C2939149
Disease: Amyloid of cornea
Amyloid of cornea 		0.010 < 0.001 1 2004 2004
dbSNP: rs267607110
rs267607110 		0.851 0.160 5 136056769 missense variant C/A snv
CUI: C2939149
Disease: Amyloid of cornea
Amyloid of cornea 		0.010 < 0.001 1 2004 2004
dbSNP: rs121909211
rs121909211 		0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2000 2000
dbSNP: rs772749342
rs772749342 		1.000 0.080 5 136053080 missense variant G/A;T snv 1.2E-05; 4.0E-06
CUI: C4048195
Disease: Autosomal dominant hypocalcemia
Autosomal dominant hypocalcemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs121909211
rs121909211 		0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.900 1.000 29 1998 2019
dbSNP: rs121909210
rs121909210 		0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.040 1.000 4 2000 2010
dbSNP: rs121909209
rs121909209 		0.763 0.160 5 136056781 missense variant G/A snv
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2000 2012
dbSNP: rs121909208
rs121909208 		0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2000 2000
dbSNP: rs121909212
rs121909212 		0.807 0.160 5 136055770 missense variant C/A;G;T snv 3.2E-04; 3.2E-05; 3.6E-05
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2000 2000
dbSNP: rs13159365
rs13159365 		5 136053744 intron variant C/T snv 0.39
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs17689879
rs17689879 		5 136057449 intron variant C/G;T snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs756463
rs756463 		5 136032068 intron variant C/T snv 0.31
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs13168506
rs13168506 		5 136060763 intron variant A/G snv 0.57
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2015 2015
dbSNP: rs121909208
rs121909208 		0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06
CUI: C0162281
Disease: Corneal deposit
Corneal deposit 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.020 1.000 2 2003 2017
dbSNP: rs121909210
rs121909210 		0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0162281
Disease: Corneal deposit
Corneal deposit 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs121909211
rs121909211 		0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05
CUI: C0162281
Disease: Corneal deposit
Corneal deposit 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs121909211
rs121909211 		0.724 0.200 5 136046407 missense variant G/A;T snv 4.0E-05
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.100 1.000 13 1998 2019
dbSNP: rs121909208
rs121909208 		0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.070 1.000 7 2000 2015
dbSNP: rs121909210
rs121909210 		0.708 0.200 5 136046406 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.070 1.000 7 1998 2019
dbSNP: rs121909212
rs121909212 		0.807 0.160 5 136055770 missense variant C/A;G;T snv 3.2E-04; 3.2E-05; 3.6E-05
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 7 1998 2016
dbSNP: rs121909209
rs121909209 		0.763 0.160 5 136056781 missense variant G/A snv
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.040 1.000 4 2000 2007
dbSNP: rs1052006472
rs1052006472 		0.827 0.200 5 136060907 missense variant A/G snv
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2002 2010
dbSNP: rs121909215
rs121909215 		0.790 0.200 5 136060898 missense variant G/A snv
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2005 2009
dbSNP: rs757933370
rs757933370 		0.925 0.080 5 136046373 missense variant G/A;T snv 1.5E-04; 4.0E-06
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2006 2006