MYO5B, myosin VB, 4645

N. diseases: 60; N. variants: 21
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: rs121908106
rs121908106 		0.925 0.200 18 49936276 missense variant G/A snv 4.3E-06
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.820 1.000 7 2008 2018
dbSNP: rs121908103
rs121908103 		1.000 0.200 18 50036982 missense variant A/C;G snv
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 6 2008 2014
dbSNP: rs121908105
rs121908105 		1.000 0.200 18 49936289 missense variant G/A;C;T snv 1.7E-05; 1.3E-05; 2.2E-05
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 6 2008 2014
dbSNP: rs1555648414
rs1555648414 		1.000 0.200 18 49974470 missense variant C/T snv
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 6 2008 2014
dbSNP: rs12965607
rs12965607 		1.000 0.040 18 49864655 intron variant T/G snv 1.0E-01
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs146524044
rs146524044 		18 50057046 intron variant A/C snv 1.0E-03
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2017 2017
dbSNP: rs146524044
rs146524044 		18 50057046 intron variant A/C snv 1.0E-03
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2017 2017
dbSNP: rs4939921
rs4939921 		1.000 0.040 18 49935958 intron variant T/C snv 9.4E-02
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.700 1.000 1 2008 2008
dbSNP: rs535211063
rs535211063 		18 50009408 intron variant A/G snv 1.0E-03
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2017 2017
dbSNP: rs535211063
rs535211063 		18 50009408 intron variant A/G snv 1.0E-03
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2017 2017
dbSNP: rs541889526
rs541889526 		18 50159516 intron variant A/T snv 1.0E-03
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2017 2017
dbSNP: rs541889526
rs541889526 		18 50159516 intron variant A/T snv 1.0E-03
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2017 2017
dbSNP: rs545804325
rs545804325 		18 49940996 intron variant T/G snv 1.4E-03
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2017 2017
dbSNP: rs545804325
rs545804325 		18 49940996 intron variant T/G snv 1.4E-03
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2017 2017
dbSNP: rs727505394
rs727505394 		1.000 0.200 18 49936250 splice donor variant A/G;T snv 4.7E-06
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2008 2008
dbSNP: rs727505395
rs727505395 		1.000 0.200 18 49878940 splice region variant C/T snv
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2008 2008
dbSNP: rs1053713532
rs1053713532 		1.000 0.200 18 49992388 missense variant C/T snv 7.0E-06
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121908104
rs121908104 		1.000 0.200 18 49974547 stop gained C/T snv 1.2E-05 2.8E-05
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1283622290
rs1283622290 		1.000 0.200 18 49974369 missense variant C/T snv 7.0E-06
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1324907355
rs1324907355 		1.000 0.200 18 50001365 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555793103
rs1555793103 		0.882 0.240 18 49836710 splice donor variant C/G snv
CUI: C0085679
Disease: Hyperchloremia
Hyperchloremia 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555793103
rs1555793103 		0.882 0.240 18 49836710 splice donor variant C/G snv
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555793103
rs1555793103 		0.882 0.240 18 49836710 splice donor variant C/G snv
CUI: C0267557
Disease: Secretory diarrhea
Secretory diarrhea 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 0
dbSNP: rs1555793103
rs1555793103 		0.882 0.240 18 49836710 splice donor variant C/G snv
CUI: C0151526
Disease: Premature Birth
Premature Birth 		Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs1555793199
rs1555793199 		0.882 0.240 18 49837750 frameshift variant G/- delins
CUI: C0151526
Disease: Premature Birth
Premature Birth 		Female Urogenital Diseases and Pregnancy Complications 0.700 0