Source: ALL

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: rs137853138
rs137853138
CRB1
1.000 0.080 1 197328835 missense variant G/A snv 1.3E-03 1.1E-03
CUI: C1868310
Disease: Pigmented Paravenous Chorioretinal Atrophy
Pigmented Paravenous Chorioretinal Atrophy 		0.810 1.000 1 2005 2005
dbSNP: rs2786098
rs2786098
CRB1
1.000 0.080 1 197356778 intron variant T/A;G snv
CUI: C0004096
Disease: Asthma
Asthma 		0.810 1.000 1 2010 2010
dbSNP: rs62636275
rs62636275
CRB1
0.851 0.080 1 197435170 missense variant G/A snv 2.8E-05 3.5E-05
CUI: C3151202
Disease: LEBER CONGENITAL AMAUROSIS 8
LEBER CONGENITAL AMAUROSIS 8 		0.800 1.000 27 2001 2017
dbSNP: rs62645748
rs62645748
CRB1
0.807 0.080 1 197434706 missense variant G/A snv 2.1E-04 2.2E-04
CUI: C3151202
Disease: LEBER CONGENITAL AMAUROSIS 8
LEBER CONGENITAL AMAUROSIS 8 		0.800 1.000 26 1999 2017
dbSNP: rs28939720
rs28939720
CRB1
0.882 0.080 1 197427559 missense variant C/A;G;T snv 4.0E-06; 6.8E-05
CUI: C3151202
Disease: LEBER CONGENITAL AMAUROSIS 8
LEBER CONGENITAL AMAUROSIS 8 		0.800 1.000 23 1999 2017
dbSNP: rs62636264
rs62636264
CRB1
0.925 0.080 1 197421266 missense variant T/C snv 8.0E-06 7.0E-05
CUI: C3151202
Disease: LEBER CONGENITAL AMAUROSIS 8
LEBER CONGENITAL AMAUROSIS 8 		0.800 1.000 21 2001 2017
dbSNP: rs62636275
rs62636275
CRB1
0.851 0.080 1 197435170 missense variant G/A snv 2.8E-05 3.5E-05
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
RETINITIS PIGMENTOSA 12 (disorder) 		0.800 1.000 21 1999 2017
dbSNP: rs776591659
rs776591659
CRB1
0.925 0.080 1 197427873 missense variant G/A snv 2.4E-05 7.0E-06
CUI: C3151202
Disease: LEBER CONGENITAL AMAUROSIS 8
LEBER CONGENITAL AMAUROSIS 8 		0.800 1.000 21 2001 2017
dbSNP: rs587783015
rs587783015
CRB1
1.000 1 197356840 missense variant G/A snv
CUI: C3151202
Disease: LEBER CONGENITAL AMAUROSIS 8
LEBER CONGENITAL AMAUROSIS 8 		0.800 1.000 20 2001 2017
dbSNP: rs62635659
rs62635659
CRB1
0.925 0.080 1 197435162 missense variant T/C;G snv
CUI: C3151202
Disease: LEBER CONGENITAL AMAUROSIS 8
LEBER CONGENITAL AMAUROSIS 8 		0.800 1.000 20 2001 2017
dbSNP: rs62636271
rs62636271
CRB1
0.882 0.080 1 197427880 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C3151202
Disease: LEBER CONGENITAL AMAUROSIS 8
LEBER CONGENITAL AMAUROSIS 8 		0.800 1.000 20 2001 2017
dbSNP: rs62645748
rs62645748
CRB1
0.807 0.080 1 197434706 missense variant G/A snv 2.1E-04 2.2E-04
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
RETINITIS PIGMENTOSA 12 (disorder) 		0.800 1.000 20 1999 2017
dbSNP: rs28939720
rs28939720
CRB1
0.882 0.080 1 197427559 missense variant C/A;G;T snv 4.0E-06; 6.8E-05
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
RETINITIS PIGMENTOSA 12 (disorder) 		0.800 1.000 18 1999 2017
dbSNP: rs62635654
rs62635654
CRB1
0.851 0.080 1 197427615 missense variant C/G;T snv 4.0E-06; 7.6E-05
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
RETINITIS PIGMENTOSA 12 (disorder) 		0.800 1.000 15 1999 2017
dbSNP: rs62635656
rs62635656
CRB1
1.000 0.080 1 197434985 missense variant T/C snv 1.2E-05 7.0E-06
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
RETINITIS PIGMENTOSA 12 (disorder) 		0.800 1.000 15 1999 2017
dbSNP: rs62636291
rs62636291
CRB1
1.000 0.080 1 197435404 missense variant T/A;C snv 4.1E-06
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
RETINITIS PIGMENTOSA 12 (disorder) 		0.800 1.000 15 1999 2017
dbSNP: rs776591659
rs776591659
CRB1
0.925 0.080 1 197427873 missense variant G/A snv 2.4E-05 7.0E-06
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
RETINITIS PIGMENTOSA 12 (disorder) 		0.800 1.000 15 1999 2017
dbSNP: rs62636275
rs62636275
CRB1
0.851 0.080 1 197435170 missense variant G/A snv 2.8E-05 3.5E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.710 1.000 1 2006 2006
dbSNP: rs62645748
rs62645748
CRB1
0.807 0.080 1 197434706 missense variant G/A snv 2.1E-04 2.2E-04
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.710 1.000 1 2008 2008
dbSNP: rs574742644
rs574742644
CRB1
1.000 1 197435476 missense variant G/A snv 4.1E-06 1.4E-05
CUI: C3151202
Disease: LEBER CONGENITAL AMAUROSIS 8
LEBER CONGENITAL AMAUROSIS 8 		0.700 1.000 20 2001 2017
dbSNP: rs62635649
rs62635649
CRB1
1.000 1 197442248 missense variant T/A snv
CUI: C3151202
Disease: LEBER CONGENITAL AMAUROSIS 8
LEBER CONGENITAL AMAUROSIS 8 		0.700 1.000 20 2001 2017
dbSNP: rs62635654
rs62635654
CRB1
0.851 0.080 1 197427615 missense variant C/G;T snv 4.0E-06; 7.6E-05
CUI: C3151202
Disease: LEBER CONGENITAL AMAUROSIS 8
LEBER CONGENITAL AMAUROSIS 8 		0.700 1.000 20 2001 2017
dbSNP: rs62636262
rs62636262
CRB1
1.000 1 197328781 missense variant T/G snv 1.6E-04 2.0E-04
CUI: C3151202
Disease: LEBER CONGENITAL AMAUROSIS 8
LEBER CONGENITAL AMAUROSIS 8 		0.700 1.000 20 2001 2017
dbSNP: rs62636266
rs62636266
CRB1
1.000 1 197421870 missense variant G/A snv 4.0E-06
CUI: C3151202
Disease: LEBER CONGENITAL AMAUROSIS 8
LEBER CONGENITAL AMAUROSIS 8 		0.700 1.000 20 2001 2017
dbSNP: rs62636267
rs62636267
CRB1
1.000 1 197427547 missense variant T/C snv 4.0E-06
CUI: C3151202
Disease: LEBER CONGENITAL AMAUROSIS 8
LEBER CONGENITAL AMAUROSIS 8 		0.700 1.000 20 2001 2017