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: 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: 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
dbSNP: rs863225205
rs863225205 		0.925 0.320 17 58219176 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 2015 2015
dbSNP: rs863225206
rs863225206 		1.000 0.160 17 58216124 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
dbSNP: rs863225207
rs863225207 		1.000 0.160 17 58206172 splice acceptor variant T/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 2015 2015
dbSNP: rs863225208
rs863225208 		0.925 0.320 17 58210988 missense variant C/T 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 2015 2015
dbSNP: rs863225209
rs863225209 		1.000 0.160 17 58213072 frameshift variant -/G ins
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: rs863225210
rs863225210 		0.925 0.320 17 58207906 missense variant G/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 2015 2015
dbSNP: rs1488635637
rs1488635637 		0.827 0.360 17 58208003 splice acceptor variant T/C;G snv 7.0E-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: rs1488635637
rs1488635637 		0.827 0.360 17 58208003 splice acceptor variant T/C;G snv 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: rs1488635637
rs1488635637 		0.827 0.360 17 58208003 splice acceptor variant T/C;G snv 7.0E-06
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 0
dbSNP: rs1488635637
rs1488635637 		0.827 0.360 17 58208003 splice acceptor variant T/C;G snv 7.0E-06
CUI: C0152427
Disease: Polydactyly
Polydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1488635637
rs1488635637 		0.827 0.360 17 58208003 splice acceptor variant T/C;G snv 7.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1488635637
rs1488635637 		0.827 0.360 17 58208003 splice acceptor variant T/C;G snv 7.0E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555596845
rs1555596845 		0.882 0.320 17 58206493 frameshift variant GTGACAGTGCCTGTGGTCTCTGTGCGGAG/- delins
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 0
dbSNP: rs1555596845
rs1555596845 		0.882 0.320 17 58206493 frameshift variant GTGACAGTGCCTGTGGTCTCTGTGCGGAG/- 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: rs1555596845
rs1555596845 		0.882 0.320 17 58206493 frameshift variant GTGACAGTGCCTGTGGTCTCTGTGCGGAG/- 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: rs1555596943
rs1555596943 		0.882 0.320 17 58206549 splice acceptor variant T/C 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 0
dbSNP: rs1555596943
rs1555596943 		0.882 0.320 17 58206549 splice acceptor variant T/C snv
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 0
dbSNP: rs1555596943
rs1555596943 		0.882 0.320 17 58206549 splice acceptor variant T/C 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 0
dbSNP: rs1555599412
rs1555599412 		0.827 0.320 17 58213011 stop gained 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 0
dbSNP: rs1555599412
rs1555599412 		0.827 0.320 17 58213011 stop gained C/A snv
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1555601787
rs1555601787 		0.882 0.320 17 58219230 start lost T/C snv
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 0
dbSNP: rs1555601787
rs1555601787 		0.882 0.320 17 58219230 start lost T/C 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 0
dbSNP: rs1555601787
rs1555601787 		0.882 0.320 17 58219230 start lost T/C 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 0