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: rs104894672
rs104894672
CRX
0.882 0.080 19 47836263 missense variant C/T snv 8.0E-06
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.820 1.000 0 1997 2019
dbSNP: rs104894671
rs104894671
CRX
0.851 0.080 19 47836381 missense variant A/C snv
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.810 1.000 0 1997 2000
dbSNP: rs104894673
rs104894673
CRX
0.776 0.160 19 47839335 missense variant C/T snv 2.1E-05
CUI: C3151192
Disease: LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 7 		0.800 1.000 0 1998 2011
dbSNP: rs61748436
rs61748436
CRX
0.851 0.080 19 47836264 missense variant G/A snv 1.4E-05
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.710 1.000 0 2000 2000
dbSNP: rs869312175
rs869312175
CRX
1.000 0.040 19 47839715 frameshift variant C/- del
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 1.000 1 2016 2016
dbSNP: rs1555801963
rs1555801963
CRX
1.000 0.040 19 47839362 stop gained C/T snv
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.700 0
dbSNP: rs1555801989
rs1555801989
CRX
1.000 0.080 19 47839514 frameshift variant TC/- delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1568626209
rs1568626209
CRX
1.000 0.080 19 47839569 frameshift variant G/- del
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.700 0
dbSNP: rs1568626289
rs1568626289
CRX
1.000 19 47839632 frameshift variant G/- del
CUI: C3151192
Disease: LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 7 		0.700 0
dbSNP: rs281865515
rs281865515
CRX
1.000 19 47839586 frameshift variant G/- delins
CUI: C3151192
Disease: LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 7 		0.700 0
dbSNP: rs281865516
rs281865516
CRX
1.000 0.080 19 47839678 frameshift variant C/- delins
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.700 0
dbSNP: rs527236062
rs527236062
CRX
1.000 0.080 19 47836335 missense variant G/C snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs527236063
rs527236063
CRX
1.000 0.080 19 47839964 missense variant G/A;C snv 1.2E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs61748449
rs61748449
CRX
1.000 0.040 19 47839594 frameshift variant G/- delins
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 0
dbSNP: rs771450991
rs771450991
CRX
19 47836261 missense variant G/A snv 1.2E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 0
dbSNP: rs863224863
rs863224863
CRX
1.000 19 47836266 missense variant G/A snv
CUI: C3151192
Disease: LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 7 		0.700 0
dbSNP: rs864309706
rs864309706
CRX
19 47839516 stop gained C/G snv
CUI: C1828210
Disease: Macular dystrophy, concentric annular
Macular dystrophy, concentric annular 		0.700 0
dbSNP: rs864309707
rs864309707
CRX
19 47839724 frameshift variant C/- delins
CUI: C1828210
Disease: Macular dystrophy, concentric annular
Macular dystrophy, concentric annular 		0.700 0
dbSNP: rs864309708
rs864309708
CRX
19 47839728 frameshift variant T/- del
CUI: C1828210
Disease: Macular dystrophy, concentric annular
Macular dystrophy, concentric annular 		0.700 0
dbSNP: rs878853383
rs878853383
CRX
19 47839672 frameshift variant G/- del
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 0