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: rs1762111
rs1762111
0.851 0.080 1 94021934 missense variant A/G snv 1.2E-03 1.3E-03
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 2 1997 2019
dbSNP: rs1800728
rs1800728
0.807 0.080 1 94011395 intron variant A/G snv 2.3E-04 3.0E-04
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 2 2005 2016
dbSNP: rs76157638
rs76157638
0.851 0.080 1 94051698 missense variant C/G;T snv 4.4E-03; 4.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 2 1997 2019
dbSNP: rs1064793014
rs1064793014
1 94007707 missense variant T/C snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2014 2014
dbSNP: rs1553186896
rs1553186896
1.000 1 94005490 missense variant A/C;G snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2012 2012
dbSNP: rs1553190559
rs1553190559
1 94042790 missense variant A/T snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2013 2013
dbSNP: rs1553192432
rs1553192432
1 94060712 frameshift variant -/C delins
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2013 2013
dbSNP: rs1553192726
rs1553192726
1.000 0.080 1 94063315 stop gained G/T snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2015 2015
dbSNP: rs1800553
rs1800553
0.742 0.240 1 94008251 missense variant C/T snv 4.7E-03 3.0E-03
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 1997 1997
dbSNP: rs61748538
rs61748538
1.000 1 94098904 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2001 2001
dbSNP: rs61748552
rs61748552
1.000 1 94078611 missense variant G/C snv 8.0E-06 8.3E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2016 2016
dbSNP: rs61749409
rs61749409
0.882 0.080 1 94062710 missense variant G/A snv 4.4E-05 2.1E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.710 1.000 1 1999 2014
dbSNP: rs61749451
rs61749451
0.925 0.080 1 94046922 missense variant G/A;T snv 2.0E-05; 3.6E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2001 2001
dbSNP: rs61750135
rs61750135
1.000 1 94031027 missense variant A/G snv 1.6E-05 1.4E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2016 2016
dbSNP: rs61750138
rs61750138
1.000 1 94030991 splice region variant C/A;T snv 1.2E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2000 2000
dbSNP: rs61750645
rs61750645
0.925 0.080 1 94001911 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 1997 1997
dbSNP: rs61750654
rs61750654
0.925 0.120 1 94000870 stop gained G/A snv 2.0E-05 7.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 1999 1999
dbSNP: rs61751374
rs61751374
0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 1997 1997
dbSNP: rs61751383
rs61751383
0.827 0.080 1 94005500 stop gained G/A snv 2.8E-05 1.4E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 1999 1999
dbSNP: rs61751389
rs61751389
0.925 0.040 1 94007722 frameshift variant C/- del 2.8E-05 7.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2000 2000
dbSNP: rs61751392
rs61751392
0.827 0.080 1 94063250 missense variant A/G snv 1.5E-04 1.7E-04
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 1998 1998
dbSNP: rs61751402
rs61751402
0.882 0.080 1 94029515 missense variant C/T snv 6.3E-05 5.6E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2016 2016
dbSNP: rs61751404
rs61751404
0.882 0.080 1 94021340 missense variant G/A;C snv 3.2E-05; 4.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2016 2016
dbSNP: rs61751406
rs61751406
0.925 0.120 1 94014622 missense variant G/T snv 2.0E-05 2.8E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 1999 1999
dbSNP: rs61752419
rs61752419
1 94042786 stop gained C/T snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2001 2001