Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1243762658
rs1243762658
TENM3
0.851 0.160 4 182754413 missense variant C/A;G snv 4.2E-06 7.0E-06
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.700 0
dbSNP: rs1243762658
rs1243762658
TENM3
0.851 0.160 4 182754413 missense variant C/A;G snv 4.2E-06 7.0E-06
CUI: C0042798
Disease: Low Vision
Low Vision 		0.700 0
dbSNP: rs1243762658
rs1243762658
TENM3
0.851 0.160 4 182754413 missense variant C/A;G snv 4.2E-06 7.0E-06
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.700 0
dbSNP: rs1243762658
rs1243762658
TENM3
0.851 0.160 4 182754413 missense variant C/A;G snv 4.2E-06 7.0E-06
CUI: C3554592
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 		0.700 0
dbSNP: rs1243762658
rs1243762658
TENM3
0.851 0.160 4 182754413 missense variant C/A;G snv 4.2E-06 7.0E-06
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs755000701
rs755000701
TENM3
0.851 0.160 4 182799938 missense variant C/T snv 9.2E-06 1.4E-05
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.700 0
dbSNP: rs755000701
rs755000701
TENM3
0.851 0.160 4 182799938 missense variant C/T snv 9.2E-06 1.4E-05
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs755000701
rs755000701
TENM3
0.851 0.160 4 182799938 missense variant C/T snv 9.2E-06 1.4E-05
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.700 0
dbSNP: rs755000701
rs755000701
TENM3
0.851 0.160 4 182799938 missense variant C/T snv 9.2E-06 1.4E-05
CUI: C0042798
Disease: Low Vision
Low Vision 		0.700 0
dbSNP: rs755000701
rs755000701
TENM3
0.851 0.160 4 182799938 missense variant C/T snv 9.2E-06 1.4E-05
CUI: C3554592
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 		0.700 0