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: rs1060499603
rs1060499603 		0.882 0.040 8 71211239 stop gained C/A snv
CUI: C3714941
Disease: OTOFACIOCERVICAL SYNDROME 1
OTOFACIOCERVICAL SYNDROME 1 		0.700 0
dbSNP: rs112340154
rs112340154 		1.000 0.040 8 71215443 missense variant A/G snv
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs121909195
rs121909195 		1.000 0.040 8 71271802 stop gained G/A;C snv 4.0E-06
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs121909197
rs121909197 		0.925 0.040 8 71211215 missense variant T/C snv
CUI: C4016751
Disease: ANTERIOR SEGMENT ANOMALIES AND CATARACT
ANTERIOR SEGMENT ANOMALIES AND CATARACT 		0.700 0
dbSNP: rs121909198
rs121909198 		1.000 0.040 8 71244656 missense variant C/T snv
CUI: C3152182
Disease: Anterior chamber anomalies
Anterior chamber anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121909199
rs121909199 		0.882 0.040 8 71216776 missense variant C/T snv 1.4E-04 1.4E-05
CUI: C4016752
Disease: BRANCHIOOTORENAL SYNDROME WITH CATARACT
BRANCHIOOTORENAL SYNDROME WITH CATARACT 		0.700 0
dbSNP: rs121909202
rs121909202 		0.925 0.040 8 71244662 stop gained G/A;T snv 4.0E-06
CUI: C1865143
Disease: BRANCHIOOTIC SYNDROME 1
BRANCHIOOTIC SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1481254965
rs1481254965 		1.000 0.040 8 71211170 stop gained G/A;C snv 4.0E-06 2.1E-05
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554541834
rs1554541834 		1.000 0.040 8 71299175 splice acceptor variant GAGCTGTTATAATACTGTGCGTACTGACCCTGGCCAAAACTGGGATAAGACGGATAGTCCTACCAAATCAAACC/- del
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554548840
rs1554548840 		1.000 0.040 8 71317576 frameshift variant C/- delins
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554596461
rs1554596461 		1.000 0.040 8 71216722 frameshift variant CT/- delins
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554615511
rs1554615511 		1.000 0.040 8 71269746 stop gained A/C snv
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554615536
rs1554615536 		1.000 0.040 8 71269774 frameshift variant AGGA/- delins
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1563422304
rs1563422304 		1.000 0.040 8 71299191 stop gained G/A snv
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs191838840
rs191838840 		1.000 0.040 8 71299149 missense variant T/C snv 1.6E-05 2.1E-05
CUI: C1865143
Disease: BRANCHIOOTIC SYNDROME 1
BRANCHIOOTIC SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs200164773
rs200164773 		1.000 0.040 8 71322242 stop gained G/A;T snv 4.0E-06
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs397517920
rs397517920 		0.882 0.040 8 71199371 missense variant A/G snv
CUI: C3714941
Disease: OTOFACIOCERVICAL SYNDROME 1
OTOFACIOCERVICAL SYNDROME 1 		0.700 0
dbSNP: rs397517920
rs397517920 		0.882 0.040 8 71199371 missense variant A/G snv
CUI: C1865143
Disease: BRANCHIOOTIC SYNDROME 1
BRANCHIOOTIC SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs606231355
rs606231355 		1.000 0.040 8 71211156 frameshift variant CTTT/- del
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs606231356
rs606231356 		1.000 0.040 8 71215477 frameshift variant GTTGTTA/- delins
CUI: C1865143
Disease: BRANCHIOOTIC SYNDROME 1
BRANCHIOOTIC SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs869025180
rs869025180 		1.000 8 71299637 splice donor variant C/T snv
CUI: C3714941
Disease: OTOFACIOCERVICAL SYNDROME 1
OTOFACIOCERVICAL SYNDROME 1 		0.700 0
dbSNP: rs121909199
rs121909199 		0.882 0.040 8 71216776 missense variant C/T snv 1.4E-04 1.4E-05
CUI: C1865143
Disease: BRANCHIOOTIC SYNDROME 1
BRANCHIOOTIC SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2018 2018
dbSNP: rs17782312
rs17782312 		1.000 0.040 8 71220245 intron variant C/A snv
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3779748
rs3779748 		8 71335939 intron variant T/C snv 0.33
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2008 2008
dbSNP: rs775097398
rs775097398 		0.925 0.120 8 71216713 missense variant T/C snv 4.0E-06
CUI: C1848641
Disease: Profound sensorineural hearing loss
Profound sensorineural hearing loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019