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: 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: rs1555801973
rs1555801973 		20 10412669 frameshift variant -/T delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 5 1999 2016
dbSNP: rs1568662687
rs1568662687 		1.000 0.120 20 10405482 frameshift variant A/- delins
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: rs1568666460
rs1568666460 		1.000 0.120 20 10413023 stop gained A/T snv
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: rs2294901
rs2294901 		1.000 0.040 20 10404855 3 prime UTR variant A/G snv 0.14
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs6077785
rs6077785 		1.000 0.040 20 10430806 intron variant A/C;T snv
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs6108572
rs6108572 		1.000 0.040 20 10432111 intron variant A/T snv 0.52
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs6133922
rs6133922 		1.000 0.040 20 10420425 intron variant A/G snv 6.4E-02
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1057516054
rs1057516054 		1.000 0.160 20 10405626 stop gained A/C snv
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 0
dbSNP: rs113994195
rs113994195 		1.000 0.120 20 10413074 frameshift variant ACTACTAAAGT/- delins
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: rs113994196
rs113994196 		1.000 0.120 20 10412638 frameshift variant -/CAGG delins
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: rs137853154
rs137853154 		1.000 20 10413073 stop gained G/A snv
CUI: C4016908
Disease: BARDET-BIEDL SYNDROME 2/6, DIGENIC
BARDET-BIEDL SYNDROME 2/6, DIGENIC 		0.700 0
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: rs1555802009
rs1555802009 		1.000 0.120 20 10412902 stop gained T/A snv
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: rs281797259
rs281797259 		0.925 0.120 20 10405464 missense variant C/G snv
CUI: C4016908
Disease: BARDET-BIEDL SYNDROME 2/6, DIGENIC
BARDET-BIEDL SYNDROME 2/6, DIGENIC 		0.700 0
dbSNP: rs587777827
rs587777827 		1.000 0.120 20 10413234 frameshift variant A/- delins
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: rs1396840386
rs1396840386 		1.000 0.120 20 10407653 missense variant C/A 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 2000 2000
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: 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: rs756083063
rs756083063 		1.000 0.120 20 10412619 missense variant G/A 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: 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: 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