Source: UNIPROT

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: rs267607064
rs267607064
SLC4A11
1.000 0.080 20 3228952 missense variant C/T snv
CUI: C2750450
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 		0.800 1.000 4 2008 2014
dbSNP: rs267607065
rs267607065
SLC4A11
1.000 0.080 20 3230954 missense variant C/T snv 4.0E-06
CUI: C2750450
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 		0.800 1.000 4 2008 2014
dbSNP: rs267607066
rs267607066
SLC4A11
1.000 0.080 20 3228687 missense variant G/A snv 3.2E-05 5.6E-05
CUI: C2750450
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 		0.800 1.000 4 2008 2014
dbSNP: rs121909393
rs121909393
SLC4A11
1.000 0.200 20 3230515 missense variant C/T snv
CUI: C1857572
Disease: CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS 		0.800 1.000 1 2007 2007
dbSNP: rs121909394
rs121909394
SLC4A11
1.000 0.200 20 3228337 missense variant A/G snv 1.6E-05 4.9E-05
CUI: C1857572
Disease: CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS 		0.800 1.000 1 2007 2007
dbSNP: rs121909395
rs121909395
SLC4A11
1.000 0.200 20 3233937 missense variant A/G snv 4.0E-06
CUI: C1857572
Disease: CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS 		0.800 1.000 1 2007 2007
dbSNP: rs121909396
rs121909396
SLC4A11
1.000 0.200 20 3228299 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C1857572
Disease: CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS 		0.800 1.000 1 2007 2007
dbSNP: rs1276051624
rs1276051624
SLC4A11
1.000 0.080 20 3234280 missense variant C/T snv 4.0E-06
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
CORNEAL ENDOTHELIAL DYSTROPHY 2 		0.710 1.000 12 2006 2016
dbSNP: rs121909387
rs121909387
SLC4A11
0.925 0.080 20 3228684 missense variant C/T snv 4.0E-06
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
CORNEAL ENDOTHELIAL DYSTROPHY 2 		0.700 1.000 12 2006 2016
dbSNP: rs121909388
rs121909388
SLC4A11
0.925 0.080 20 3230258 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
CORNEAL ENDOTHELIAL DYSTROPHY 2 		0.700 1.000 12 2006 2016
dbSNP: rs121909389
rs121909389
SLC4A11
0.925 0.080 20 3230587 missense variant C/T snv 4.0E-06
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
CORNEAL ENDOTHELIAL DYSTROPHY 2 		0.700 1.000 12 2006 2016
dbSNP: rs121909391
rs121909391
SLC4A11
0.925 0.080 20 3228260 missense variant G/A snv 8.0E-06
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
CORNEAL ENDOTHELIAL DYSTROPHY 2 		0.700 1.000 12 2006 2016
dbSNP: rs121909392
rs121909392
SLC4A11
0.925 0.080 20 3228259 missense variant C/T snv 1.2E-05
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
CORNEAL ENDOTHELIAL DYSTROPHY 2 		0.700 1.000 12 2006 2016
dbSNP: rs1298347142
rs1298347142
SLC4A11
1.000 0.080 20 3231520 missense variant G/A snv 7.0E-06
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
CORNEAL ENDOTHELIAL DYSTROPHY 2 		0.700 1.000 12 2006 2016
dbSNP: rs1465111896
rs1465111896
SLC4A11
1.000 0.080 20 3228630 missense variant G/A snv
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
CORNEAL ENDOTHELIAL DYSTROPHY 2 		0.700 1.000 12 2006 2016
dbSNP: rs757244518
rs757244518
SLC4A11
1.000 0.080 20 3228395 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
CORNEAL ENDOTHELIAL DYSTROPHY 2 		0.700 1.000 12 2006 2016
dbSNP: rs759667344
rs759667344
SLC4A11
1.000 0.080 20 3233936 missense variant G/A snv 8.0E-06
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
CORNEAL ENDOTHELIAL DYSTROPHY 2 		0.700 1.000 12 2006 2016
dbSNP: rs762942751
rs762942751
SLC4A11
1.000 0.080 20 3233594 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
CORNEAL ENDOTHELIAL DYSTROPHY 2 		0.700 1.000 12 2006 2016
dbSNP: rs766567944
rs766567944
SLC4A11
1.000 0.080 20 3228537 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
CORNEAL ENDOTHELIAL DYSTROPHY 2 		0.700 1.000 12 2006 2016
dbSNP: rs780171125
rs780171125
SLC4A11
1.000 0.080 20 3230969 missense variant C/G;T snv 4.0E-06; 1.2E-05
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
CORNEAL ENDOTHELIAL DYSTROPHY 2 		0.700 1.000 12 2006 2016
dbSNP: rs139078082
rs139078082
SLC4A11
1.000 0.080 20 3229566 missense variant C/T snv 2.5E-04 1.5E-04
CUI: C2750450
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 		0.700 1.000 4 2008 2014
dbSNP: rs141836046
rs141836046
SLC4A11
1.000 0.080 20 3234153 missense variant C/G snv 4.0E-04 3.0E-04
CUI: C2750450
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 		0.700 1.000 4 2008 2014
dbSNP: rs144586846
rs144586846
SLC4A11
1.000 0.080 20 3228365 missense variant C/T snv 1.5E-04 1.9E-04
CUI: C2750450
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 		0.700 1.000 4 2008 2014
dbSNP: rs144734280
rs144734280
SLC4A11
1.000 0.080 20 3229591 missense variant C/G;T snv 4.0E-06; 1.3E-04
CUI: C2750450
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 		0.700 1.000 4 2008 2014
dbSNP: rs150571742
rs150571742
SLC4A11
1.000 0.080 20 3229737 missense variant T/C snv 1.2E-05 2.8E-05
CUI: C2750450
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 		0.700 1.000 4 2008 2014