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: rs386834043
rs386834043 		0.851 0.320 17 58206553 splice region variant ATGCCATTGGGACAGCCTCAGGTTTCTGC/- delins 1.3E-03
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 2006 2016
dbSNP: rs386834043
rs386834043 		0.851 0.320 17 58206553 splice region variant ATGCCATTGGGACAGCCTCAGGTTTCTGC/- delins 1.3E-03
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 5 2006 2007
dbSNP: rs863225205
rs863225205 		0.925 0.320 17 58219176 missense variant 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 3 2006 2016
dbSNP: rs863225208
rs863225208 		0.925 0.320 17 58210988 missense variant C/T 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 3 2006 2016
dbSNP: rs863225210
rs863225210 		0.925 0.320 17 58207906 missense variant G/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 3 2006 2016
dbSNP: rs386834043
rs386834043 		0.851 0.320 17 58206553 splice region variant ATGCCATTGGGACAGCCTCAGGTTTCTGC/- delins 1.3E-03
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 1.000 2 2006 2012
dbSNP: rs1114167302
rs1114167302 		0.925 0.320 17 58216687 missense variant C/A snv
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 2016 2016
dbSNP: rs1114167302
rs1114167302 		0.925 0.320 17 58216687 missense variant 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 0.010 1.000 1 2016 2016
dbSNP: rs111786708
rs111786708 		1.000 0.040 17 58211816 intron variant T/C snv 4.2E-03
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs111786708
rs111786708 		1.000 0.040 17 58211816 intron variant T/C snv 4.2E-03
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs140543894
rs140543894 		1.000 0.040 17 58211748 intron variant T/G snv 4.2E-03
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs140543894
rs140543894 		1.000 0.040 17 58211748 intron variant T/G snv 4.2E-03
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs146873050
rs146873050 		1.000 0.040 17 58213965 intron variant T/C snv 4.2E-03
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs146873050
rs146873050 		1.000 0.040 17 58213965 intron variant T/C snv 4.2E-03
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2015 2015
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: rs1555600644
rs1555600644 		1.000 0.160 17 58216280 intron variant ATTATAATACATCAAACTTTTGCTTCTGTAACTGTTTAATCAAATCAGTTCTACAGAACTGATGCTATCTGACATGTTTTCATAACCAACACTAAACTAATGAATGGCAGGGGAACCAAGAACATTAGAGCTAAAAGGAACCA/- del
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 2015 2015
dbSNP: rs185405908
rs185405908 		17 58205757 3 prime UTR variant C/A;G snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs386834046
rs386834046 		0.882 0.320 17 58218620 frameshift variant AGTTGGC/- delins
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 1.000 1 2007 2007
dbSNP: rs386834046
rs386834046 		0.882 0.320 17 58218620 frameshift variant AGTTGGC/- 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 1.000 1 2007 2007
dbSNP: rs386834046
rs386834046 		0.882 0.320 17 58218620 frameshift variant AGTTGGC/- 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 1.000 1 2007 2007
dbSNP: rs386834052
rs386834052 		0.882 0.320 17 58219149 splice donor variant A/G snv
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 1.000 1 2006 2006
dbSNP: rs386834052
rs386834052 		0.882 0.320 17 58219149 splice donor variant A/G 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 2006 2006
dbSNP: rs386834052
rs386834052 		0.882 0.320 17 58219149 splice donor variant A/G 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 2006 2006