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: 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: rs775043799
rs775043799 		0.882 0.320 17 58216137 frameshift variant -/G delins
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 0
dbSNP: rs775043799
rs775043799 		0.882 0.320 17 58216137 frameshift variant -/G 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: rs775043799
rs775043799 		0.882 0.320 17 58216137 frameshift variant -/G 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: rs786204222
rs786204222 		0.925 0.200 17 58216694 missense variant A/C;G snv
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs786204222
rs786204222 		0.925 0.200 17 58216694 missense variant A/C;G 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: rs786205508
rs786205508 		0.851 0.200 17 58208542 stop gained G/A snv
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs786205508
rs786205508 		0.851 0.200 17 58208542 stop gained G/A snv
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs786205508
rs786205508 		0.851 0.200 17 58208542 stop gained G/A 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: rs786205508
rs786205508 		0.851 0.200 17 58208542 stop gained G/A snv
CUI: C0152427
Disease: Polydactyly
Polydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs786205508
rs786205508 		0.851 0.200 17 58208542 stop gained G/A snv
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs794727070
rs794727070 		0.882 0.320 17 58208585 splice acceptor variant T/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 0
dbSNP: rs794727070
rs794727070 		0.882 0.320 17 58208585 splice acceptor variant T/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 0
dbSNP: rs794727070
rs794727070 		0.882 0.320 17 58208585 splice acceptor variant T/G snv
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 0
dbSNP: rs797045706
rs797045706 		0.882 0.320 17 58212996 stop gained G/A snv 7.0E-06
CUI: C4310705
Disease: JOUBERT SYNDROME 28
JOUBERT SYNDROME 28 		0.700 0
dbSNP: rs797045706
rs797045706 		0.882 0.320 17 58212996 stop gained G/A 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: rs797045706
rs797045706 		0.882 0.320 17 58212996 stop gained G/A 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: 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: 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