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: 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: rs62083740
rs62083740 		17 58218340 intron variant C/A;G;T snv 0.25
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs886038203
rs886038203 		1.000 17 58206382 splice acceptor variant T/C snv
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 0
dbSNP: rs886038204
rs886038204 		1.000 17 58206282 splice donor variant C/A snv
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 0
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: 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: rs199910690
rs199910690 		1.000 0.120 17 58206158 missense variant C/T snv 2.3E-04 1.1E-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 0
dbSNP: rs200865108
rs200865108 		1.000 0.120 17 58207143 missense variant A/G snv 4.2E-04 1.5E-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: 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: 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: rs886039803
rs886039803 		0.925 0.120 17 58216664 splice donor variant A/T snv
CUI: C0152427
Disease: Polydactyly
Polydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs886039803
rs886039803 		0.925 0.120 17 58216664 splice donor variant A/T snv
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs886039803
rs886039803 		0.925 0.120 17 58216664 splice donor variant A/T snv
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 0
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: 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: rs773269657
rs773269657 		1.000 0.160 17 58207103 synonymous variant C/A snv 4.0E-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 1 2015 2015
dbSNP: rs779953982
rs779953982 		1.000 0.160 17 58214763 missense variant G/A snv 3.7E-05 2.1E-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 2015 2015
dbSNP: rs863225204
rs863225204 		1.000 0.160 17 58206342 frameshift variant -/G delins
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