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: rs572076167
rs572076167 		3 132716018 intron variant T/C;G snv
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs755094682
rs755094682 		1.000 0.080 3 132708186 missense variant C/T snv 1.2E-04 2.8E-05
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2003 2003
dbSNP: rs771742823
rs771742823 		1.000 0.080 3 132719800 stop gained G/A snv 1.2E-05 1.4E-05
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2017 2017
dbSNP: rs886039762
rs886039762 		1.000 3 132675363 missense variant A/G snv
CUI: C4310699
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24 		0.700 1.000 1 2016 2016
dbSNP: rs1057521090
rs1057521090 		1.000 0.080 3 132684702 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1060499938
rs1060499938 		0.925 0.080 3 132683487 frameshift variant G/- del
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1060499938
rs1060499938 		0.925 0.080 3 132683487 frameshift variant G/- del
CUI: C1858392
Disease: NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 3 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs114925667
rs114925667 		0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		0.700 0
dbSNP: rs114925667
rs114925667 		0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs114925667
rs114925667 		0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs114925667
rs114925667 		0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs114925667
rs114925667 		0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C4310699
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24 		0.700 0
dbSNP: rs114925667
rs114925667 		0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs114925667
rs114925667 		0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0401149
Disease: Chronic constipation
Chronic constipation 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs114925667
rs114925667 		0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C1456852
Disease: Ventouse delivery (finding)
Ventouse delivery (finding) 		0.700 0
dbSNP: rs114925667
rs114925667 		0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		Nervous System Diseases 0.700 0
dbSNP: rs114925667
rs114925667 		0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0015310
Disease: Exotropia
Exotropia 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs114925667
rs114925667 		0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs114925667
rs114925667 		0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs114925667
rs114925667 		0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs114925667
rs114925667 		0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs114925667
rs114925667 		0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C1854882
Disease: Absent speech
Absent speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs114925667
rs114925667 		0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C4021227
Disease: Underdeveloped nasolabial fold
Underdeveloped nasolabial fold 		0.700 0
dbSNP: rs114925667
rs114925667 		0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C1849043
Disease: Soft, doughy skin
Soft, doughy skin 		0.700 0
dbSNP: rs114925667
rs114925667 		0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.700 0