TEK, TEK receptor tyrosine kinase, 7010

N. diseases: 300; N. variants: 17
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, E ×
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: rs146169480
rs146169480 		1.000 9 27173343 missense variant G/C snv 1.2E-04 1.5E-04
CUI: C4310639
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, E
GLAUCOMA 3, PRIMARY CONGENITAL, E 		0.700 1.000 1 2016 2016
dbSNP: rs1306527531
rs1306527531 		1.000 9 27197522 missense variant A/G snv 7.0E-06
CUI: C4310639
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, E
GLAUCOMA 3, PRIMARY CONGENITAL, E 		0.700 0
dbSNP: rs541217363
rs541217363 		1.000 9 27180259 stop gained C/A;T snv 2.0E-05
CUI: C4310639
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, E
GLAUCOMA 3, PRIMARY CONGENITAL, E 		0.700 0
dbSNP: rs753021890
rs753021890 		1.000 9 27168578 stop gained G/A;T snv 4.0E-06
CUI: C4310639
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, E
GLAUCOMA 3, PRIMARY CONGENITAL, E 		0.700 0