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: rs754279998
rs754279998 		0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 3 2014 2016
dbSNP: rs754279998
rs754279998 		0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-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 1.000 3 2014 2016
dbSNP: rs754279998
rs754279998 		0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05
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 1.000 3 2014 2016
dbSNP: rs2302313
rs2302313 		0.925 0.080 17 58205665 3 prime UTR variant G/A snv 9.2E-02 8.3E-02
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs2302313
rs2302313 		0.925 0.080 17 58205665 3 prime UTR variant G/A snv 9.2E-02 8.3E-02
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1555599412
rs1555599412 		0.827 0.320 17 58213011 stop gained C/A snv
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 1.000 1 2011 2011
dbSNP: rs1555599412
rs1555599412 		0.827 0.320 17 58213011 stop gained C/A 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 0.700 1.000 1 2011 2011
dbSNP: rs1555599412
rs1555599412 		0.827 0.320 17 58213011 stop gained C/A snv
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 1.000 1 2011 2011
dbSNP: rs886044605
rs886044605 		1.000 0.320 17 58216174 missense variant T/C;G snv 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 0.010 < 0.001 1 2011 2011
dbSNP: rs137853105
rs137853105 		0.882 0.160 17 58206479 missense variant A/C snv 5.6E-05 2.8E-05
CUI: C2673873
Disease: BARDET-BIEDL SYNDROME 13
BARDET-BIEDL SYNDROME 13 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 1 2008 2008
dbSNP: rs386834048
rs386834048 		0.827 0.320 17 58216088 splice region variant C/T snv 1.3E-04 1.3E-04
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 7 2007 2017
dbSNP: rs386834048
rs386834048 		0.827 0.320 17 58216088 splice region variant C/T snv 1.3E-04 1.3E-04
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 1.000 6 2007 2017
dbSNP: rs386834048
rs386834048 		0.827 0.320 17 58216088 splice region variant C/T snv 1.3E-04 1.3E-04
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 1.000 4 2007 2015
dbSNP: rs386834048
rs386834048 		0.827 0.320 17 58216088 splice region variant C/T snv 1.3E-04 1.3E-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 0.700 1.000 4 2007 2015
dbSNP: rs386834048
rs386834048 		0.827 0.320 17 58216088 splice region variant C/T snv 1.3E-04 1.3E-04
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 1.000 4 2007 2015
dbSNP: rs762668200
rs762668200 		0.882 0.320 17 58206543 splice acceptor variant -/C delins 6.5E-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 1.000 2 2007 2007
dbSNP: rs762668200
rs762668200 		0.882 0.320 17 58206543 splice acceptor variant -/C delins 6.5E-05 7.0E-06
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 2 2007 2007
dbSNP: rs199874059
rs199874059 		0.882 0.320 17 58210658 splice donor variant C/T snv 6.0E-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 1.000 1 2007 2007
dbSNP: rs199874059
rs199874059 		0.882 0.320 17 58210658 splice donor variant C/T snv 6.0E-05 2.1E-05
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 1.000 1 2007 2007
dbSNP: rs199874059
rs199874059 		0.882 0.320 17 58210658 splice donor variant C/T snv 6.0E-05 2.1E-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 1.000 1 2007 2007
dbSNP: rs201933838
rs201933838 		0.882 0.320 17 58214740 splice donor variant C/T snv 1.2E-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 1.000 1 2007 2007
dbSNP: rs201933838
rs201933838 		0.882 0.320 17 58214740 splice donor variant C/T snv 1.2E-05
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 1.000 1 2007 2007
dbSNP: rs201933838
rs201933838 		0.882 0.320 17 58214740 splice donor variant C/T snv 1.2E-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 1.000 1 2007 2007
dbSNP: rs375170572
rs375170572 		0.827 0.320 17 58218618 splice donor variant A/G snv 3.2E-05 3.5E-05
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 1.000 1 2007 2007
dbSNP: rs375170572
rs375170572 		0.827 0.320 17 58218618 splice donor variant A/G snv 3.2E-05 3.5E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2007 2007