MIP, major intrinsic protein of lens fiber, 4284

N. diseases: 181; N. variants: 21
Disease: CATARACT 15, MULTIPLE TYPES ×
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: 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: 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