MKKS, McKusick-Kaufman syndrome, 8195

N. diseases: 123; N. variants: 37
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: rs1555801973
rs1555801973 		20 10412669 frameshift variant -/T delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 5 1999 2016
dbSNP: rs137853156
rs137853156 		20 10412542 missense variant T/G snv
CUI: C2675305
Disease: BARDET-BIEDL SYNDROME 1, MODIFIER OF
BARDET-BIEDL SYNDROME 1, MODIFIER OF 		0.700 0
dbSNP: rs74315396
rs74315396 		0.827 0.240 20 10413405 missense variant T/C snv 6.8E-05 1.1E-04
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 17 2000 2017
dbSNP: rs74315396
rs74315396 		0.827 0.240 20 10413405 missense variant T/C snv 6.8E-05 1.1E-04
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 4 2000 2017
dbSNP: rs74315396
rs74315396 		0.827 0.240 20 10413405 missense variant T/C snv 6.8E-05 1.1E-04
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 3 2000 2010
dbSNP: rs74315396
rs74315396 		0.827 0.240 20 10413405 missense variant T/C snv 6.8E-05 1.1E-04
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs74315396
rs74315396 		0.827 0.240 20 10413405 missense variant T/C snv 6.8E-05 1.1E-04
CUI: C4016908
Disease: BARDET-BIEDL SYNDROME 2/6, DIGENIC
BARDET-BIEDL SYNDROME 2/6, DIGENIC 		0.700 0
dbSNP: rs74315394
rs74315394 		0.851 0.440 20 10412791 missense variant C/A snv 5.2E-03 5.0E-03
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.710 1.000 18 2000 2017
dbSNP: rs74315394
rs74315394 		0.851 0.440 20 10412791 missense variant C/A snv 5.2E-03 5.0E-03
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Cardiovascular Diseases 0.720 1.000 3 2000 2017
dbSNP: rs74315394
rs74315394 		0.851 0.440 20 10412791 missense variant C/A snv 5.2E-03 5.0E-03
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs74315394
rs74315394 		0.851 0.440 20 10412791 missense variant C/A snv 5.2E-03 5.0E-03
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: rs912923677
rs912923677 		0.851 0.240 20 10407704 missense variant T/C snv 4.0E-06
CUI: C0152427
Disease: Polydactyly
Polydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs912923677
rs912923677 		0.851 0.240 20 10407704 missense variant T/C snv 4.0E-06
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs912923677
rs912923677 		0.851 0.240 20 10407704 missense variant T/C snv 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs912923677
rs912923677 		0.851 0.240 20 10407704 missense variant T/C snv 4.0E-06
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs281797258
rs281797258 		0.882 0.400 20 10413265 missense variant G/A snv 4.0E-06 2.4E-04
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 2 2000 2017
dbSNP: rs281797258
rs281797258 		0.882 0.400 20 10413265 missense variant G/A snv 4.0E-06 2.4E-04
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: rs281797258
rs281797258 		0.882 0.400 20 10413265 missense variant G/A snv 4.0E-06 2.4E-04
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: rs1297985227
rs1297985227 		0.925 0.120 20 10413220 missense variant A/G snv 4.0E-06
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 17 2000 2017
dbSNP: rs281797259
rs281797259 		0.925 0.120 20 10405464 missense variant C/G snv
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 17 2000 2017
dbSNP: rs74315399
rs74315399 		0.925 0.240 20 10413346 missense variant T/C snv 2.0E-05 1.4E-05
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
BARDET-BIEDL SYNDROME 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 17 2000 2017
dbSNP: rs1297985227
rs1297985227 		0.925 0.120 20 10413220 missense variant A/G snv 4.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1306231185
rs1306231185 		0.925 0.120 20 10407645 stop gained -/TTCA delins 4.0E-06 7.0E-06
CUI: C0271092
Disease: Progressive cone dystrophy (without rod involvement)
Progressive cone dystrophy (without rod involvement) 		Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1306231185
rs1306231185 		0.925 0.120 20 10407645 stop gained -/TTCA delins 4.0E-06 7.0E-06
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1545
rs1545 		0.925 0.080 20 10405365 missense variant C/A snv 0.14 0.14
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009