MKKS, McKusick-Kaufman syndrome, 8195

N. diseases: 123; N. variants: 37
Disease: Kaufman-McKusick syndrome ×
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: 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: 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: 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: 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: rs74315399
rs74315399 		0.925 0.240 20 10413346 missense variant T/C snv 2.0E-05 1.4E-05
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: 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