MKS1, MKS transition zone complex subunit 1, 54903

N. diseases: 231; N. variants: 57
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: rs201619500
rs201619500 		1.000 0.120 17 58207104 missense variant C/T snv 2.2E-03 2.3E-03
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: rs375170572
rs375170572 		0.827 0.320 17 58218618 splice donor variant A/G snv 3.2E-05 3.5E-05
CUI: C2673873
Disease: BARDET-BIEDL SYNDROME 13
BARDET-BIEDL SYNDROME 13 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs375170572
rs375170572 		0.827 0.320 17 58218618 splice donor variant A/G snv 3.2E-05 3.5E-05
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 0.700 0
dbSNP: rs375170572
rs375170572 		0.827 0.320 17 58218618 splice donor variant A/G snv 3.2E-05 3.5E-05
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 0
dbSNP: rs386834043
rs386834043 		0.851 0.320 17 58206553 splice region variant ATGCCATTGGGACAGCCTCAGGTTTCTGC/- delins 1.3E-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 0.700 0
dbSNP: rs386834044
rs386834044 		0.851 0.320 17 58206501 frameshift variant -/CCTG delins 7.2E-05 7.0E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs386834053
rs386834053 		0.925 0.320 17 58210980 missense variant C/T snv 2.0E-05 2.1E-05
CUI: C1854260
Disease: LEBER CONGENITAL AMAUROSIS 6 (disorder)
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs386834053
rs386834053 		0.925 0.320 17 58210980 missense variant C/T snv 2.0E-05 2.1E-05
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 0.700 0
dbSNP: rs587777804
rs587777804 		1.000 0.120 17 58208156 inframe deletion AAG/- delins
CUI: C2673873
Disease: BARDET-BIEDL SYNDROME 13
BARDET-BIEDL SYNDROME 13 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587777804
rs587777804 		1.000 0.120 17 58208156 inframe deletion AAG/- delins
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		0.700 0
dbSNP: rs730880323
rs730880323 		1.000 0.320 17 58219176 frameshift variant -/CCGGG delins
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 0.700 0
dbSNP: rs754279998
rs754279998 		0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs754279998
rs754279998 		0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05
CUI: C0239399
Disease: Short extremities
Short extremities 		0.700 0
dbSNP: rs754279998
rs754279998 		0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs754279998
rs754279998 		0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05
CUI: C0152427
Disease: Polydactyly
Polydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs754279998
rs754279998 		0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05
CUI: C0240595
Disease: Rotary Nystagmus
Rotary Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs756102768
rs756102768 		0.882 0.320 17 58212981 splice donor variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C2673873
Disease: BARDET-BIEDL SYNDROME 13
BARDET-BIEDL SYNDROME 13 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs756102768
rs756102768 		0.882 0.320 17 58212981 splice donor variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 0
dbSNP: rs756102768
rs756102768 		0.882 0.320 17 58212981 splice donor variant C/G;T snv 4.0E-06; 4.0E-06
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 0.700 0
dbSNP: rs756853299
rs756853299 		0.882 0.320 17 58214748 stop gained G/A snv 8.2E-06
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 0
dbSNP: rs756853299
rs756853299 		0.882 0.320 17 58214748 stop gained G/A snv 8.2E-06
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 0.700 0
dbSNP: rs756853299
rs756853299 		0.882 0.320 17 58214748 stop gained G/A snv 8.2E-06
CUI: C2673873
Disease: BARDET-BIEDL SYNDROME 13
BARDET-BIEDL SYNDROME 13 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs762668200
rs762668200 		0.882 0.320 17 58206543 splice acceptor variant -/C delins 6.5E-05 7.0E-06
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 0.700 0
dbSNP: rs773684291
rs773684291 		0.925 0.320 17 58207959 missense variant G/A;C snv 8.0E-06; 4.0E-06
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 0.700 0
dbSNP: rs775043799
rs775043799 		0.882 0.320 17 58216137 frameshift variant -/G delins
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 0