MIP, major intrinsic protein of lens fiber, 4284

N. diseases: 181; 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: rs121917867
rs121917867 		0.925 0.040 12 56453703 missense variant G/A;C snv 4.0E-05
CUI: C3809001
Disease: CATARACT 15, MULTIPLE TYPES
CATARACT 15, MULTIPLE TYPES 		0.800 1.000 10 2000 2015
dbSNP: rs121917869
rs121917869 		0.851 0.080 12 56453715 missense variant T/C;G snv
CUI: C3809001
Disease: CATARACT 15, MULTIPLE TYPES
CATARACT 15, MULTIPLE TYPES 		0.800 1.000 10 2000 2015
dbSNP: rs74641138
rs74641138 		0.925 0.080 12 56454295 missense variant C/T snv 2.4E-02 2.0E-02
CUI: C3809001
Disease: CATARACT 15, MULTIPLE TYPES
CATARACT 15, MULTIPLE TYPES 		0.700 1.000 10 2000 2015
dbSNP: rs778327521
rs778327521 		0.925 0.040 12 56453668 missense variant C/G;T snv 1.6E-05; 3.6E-05
CUI: C3809001
Disease: CATARACT 15, MULTIPLE TYPES
CATARACT 15, MULTIPLE TYPES 		0.700 1.000 10 2000 2015
dbSNP: rs1082214
rs1082214 		0.925 0.080 12 56452706 non coding transcript exon variant C/T snv 9.3E-02
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12313841
rs12313841 		12 56462834 intron variant C/T snv 0.28
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2638318
rs2638318 		12 56463638 intron variant C/T snv 0.55
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2638319
rs2638319 		12 56463273 intron variant C/T snv 0.55
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs34287864
rs34287864 		12 56464533 intron variant G/A snv 0.29
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7302925
rs7302925 		12 56467674 intron variant A/G snv 0.69
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		0.700 1.000 1 2019 2019
dbSNP: rs7302925
rs7302925 		12 56467674 intron variant A/G snv 0.69
CUI: C0302274
Disease: Glutamine measurement
Glutamine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs7302925
rs7302925 		12 56467674 intron variant A/G snv 0.69
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs73114872
rs73114872 		12 56467250 intron variant T/C snv 0.15
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		0.700 1.000 1 2019 2019
dbSNP: rs799187
rs799187 		12 56452059 intron variant T/A snv 1.0E-01
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs864309693
rs864309693 		0.882 0.200 12 56454517 missense variant G/A snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs864309696
rs864309696 		1.000 0.200 12 56453080 frameshift variant -/GAATGTTCCCAGTG delins
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519616
rs1057519616 		1.000 12 56453607 frameshift variant -/G delins
CUI: C3809001
Disease: CATARACT 15, MULTIPLE TYPES
CATARACT 15, MULTIPLE TYPES 		0.700 0
dbSNP: rs1114167315
rs1114167315 		1.000 0.200 12 56451441 stop gained C/A snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555179713
rs1555179713 		1.000 12 56451449 frameshift variant G/- delins
CUI: C3809001
Disease: CATARACT 15, MULTIPLE TYPES
CATARACT 15, MULTIPLE TYPES 		0.700 0
dbSNP: rs267603585
rs267603585 		0.925 0.200 12 56453119 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C3809001
Disease: CATARACT 15, MULTIPLE TYPES
CATARACT 15, MULTIPLE TYPES 		0.700 0
dbSNP: rs398122378
rs398122378 		1.000 12 56451434 frameshift variant C/- delins 4.0E-06
CUI: C3809001
Disease: CATARACT 15, MULTIPLE TYPES
CATARACT 15, MULTIPLE TYPES 		0.700 0
dbSNP: rs864309693
rs864309693 		0.882 0.200 12 56454517 missense variant G/A snv
CUI: C3809001
Disease: CATARACT 15, MULTIPLE TYPES
CATARACT 15, MULTIPLE TYPES 		0.700 0
dbSNP: rs1082214
rs1082214 		0.925 0.080 12 56452706 non coding transcript exon variant C/T snv 9.3E-02
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.010 1.000 1 2010 2010
dbSNP: rs1082214
rs1082214 		0.925 0.080 12 56452706 non coding transcript exon variant C/T snv 9.3E-02
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.010 1.000 1 2010 2010
dbSNP: rs1082214
rs1082214 		0.925 0.080 12 56452706 non coding transcript exon variant C/T snv 9.3E-02
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.010 1.000 1 2010 2010