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: rs104893679
rs104893679 		1.000 0.120 3 97791797 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C1859564
Disease: Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 3 2004 2013
dbSNP: rs104893680
rs104893680 		1.000 0.120 3 97768199 missense variant C/G;T snv 4.0E-06
CUI: C1859564
Disease: Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 3 2004 2013
dbSNP: rs104893681
rs104893681 		1.000 0.120 3 97791800 missense variant T/C;G snv 4.0E-06
CUI: C1859564
Disease: Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 3 2004 2013
dbSNP: rs587777805
rs587777805 		1.000 3 97784966 missense variant C/G;T snv 5.2E-05
CUI: C3150808
Disease: RETINITIS PIGMENTOSA 55
RETINITIS PIGMENTOSA 55 		0.800 1.000 1 2009 2009
dbSNP: rs1559679965
rs1559679965 		0.925 0.120 3 97780221 splice donor variant G/C snv
CUI: C3150808
Disease: RETINITIS PIGMENTOSA 55
RETINITIS PIGMENTOSA 55 		0.700 1.000 1 2004 2004
dbSNP: rs1559679965
rs1559679965 		0.925 0.120 3 97780221 splice donor variant G/C snv
CUI: C1859564
Disease: Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2004 2004
dbSNP: rs771054395
rs771054395 		0.882 0.120 3 97784981 missense variant T/C snv 3.2E-05 2.1E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2013 2013
dbSNP: rs104893678
rs104893678 		0.925 0.120 3 97788004 stop gained C/T snv 8.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104893678
rs104893678 		0.925 0.120 3 97788004 stop gained C/T snv 8.0E-06
CUI: C1859564
Disease: Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104893679
rs104893679 		1.000 0.120 3 97791797 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C2675305
Disease: BARDET-BIEDL SYNDROME 1, MODIFIER OF
BARDET-BIEDL SYNDROME 1, MODIFIER OF 		0.700 0
dbSNP: rs1057515576
rs1057515576 		0.807 0.280 3 97787991 frameshift variant TAT/GAAAA delins
CUI: C1859564
Disease: Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057515576
rs1057515576 		0.807 0.280 3 97787991 frameshift variant TAT/GAAAA delins
CUI: C4551492
Disease: Micropenis
Micropenis 		0.700 0
dbSNP: rs1057515576
rs1057515576 		0.807 0.280 3 97787991 frameshift variant TAT/GAAAA delins
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1057515576
rs1057515576 		0.807 0.280 3 97787991 frameshift variant TAT/GAAAA delins
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057515576
rs1057515576 		0.807 0.280 3 97787991 frameshift variant TAT/GAAAA delins
CUI: C1408258
Disease: Kidney damage
Kidney damage 		0.700 0
dbSNP: rs1057515576
rs1057515576 		0.807 0.280 3 97787991 frameshift variant TAT/GAAAA delins
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		Endocrine System Diseases 0.700 0
dbSNP: rs1057515576
rs1057515576 		0.807 0.280 3 97787991 frameshift variant TAT/GAAAA delins
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057515576
rs1057515576 		0.807 0.280 3 97787991 frameshift variant TAT/GAAAA delins
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		Eye Diseases 0.700 0
dbSNP: rs1057515576
rs1057515576 		0.807 0.280 3 97787991 frameshift variant TAT/GAAAA delins
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs771054395
rs771054395 		0.882 0.120 3 97784981 missense variant T/C snv 3.2E-05 2.1E-05
CUI: C1859564
Disease: Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs375431319
rs375431319 		0.925 0.320 3 97780679 missense variant T/C snv
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs375431319
rs375431319 		0.925 0.320 3 97780679 missense variant T/C snv
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs771054395
rs771054395 		0.882 0.120 3 97784981 missense variant T/C snv 3.2E-05 2.1E-05
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013