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: rs1553263218
rs1553263218
1 197435404 frameshift variant -/G delins
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2007 2007
dbSNP: rs1554270834
rs1554270834
6 42722069 frameshift variant GCTGGGTC/- del
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2014 2014
dbSNP: rs1554824273
rs1554824273
RGR
10 84258712 3 prime UTR variant -/G delins
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 1999 1999
dbSNP: rs1555096248
rs1555096248
11 61950428 splice donor variant G/T snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2013 2013
dbSNP: rs1556318633
rs1556318633
RP2
0.925 0.080 X 46853725 missense variant C/T snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2003 2003
dbSNP: rs1557106557
rs1557106557
1.000 0.040 X 49212756 missense variant G/A snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2015 2015
dbSNP: rs1563329888
rs1563329888
RP1
1.000 0.080 8 54625333 stop gained C/A snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2019 2019
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: rs199683808
rs199683808
1 68448644 missense variant G/A;C snv 1.6E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2008 2008
dbSNP: rs200691042
rs200691042
0.851 0.080 2 61839695 stop gained T/A snv 2.8E-04 2.9E-04
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2019 2019
dbSNP: rs202193201
rs202193201
0.925 0.080 2 61839437 stop gained G/A;C;T snv 4.8E-05; 1.8E-04
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2019 2019
dbSNP: rs372513650
rs372513650
4 15998489 splice acceptor variant C/G snv 3.0E-05 1.4E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2015 2015
dbSNP: rs373331232
rs373331232
4 16023380 stop gained G/A;C snv 1.7E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2014 2014
dbSNP: rs386834158
rs386834158
0.851 0.280 12 88077790 frameshift variant T/- delins 2.2E-05 7.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2007 2007
dbSNP: rs386834261
rs386834261
0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2004 2004
dbSNP: rs397515360
rs397515360
0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2000 2000
dbSNP: rs398123575
rs398123575
EYS
1.000 0.080 6 63864319 stop gained A/C snv 1.9E-05 4.2E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2016 2016
dbSNP: rs543698823
rs543698823
0.882 0.080 4 16006637 frameshift variant -/A delins 2.2E-04 2.1E-04
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2009 2009
dbSNP: rs569826109
rs569826109
1.000 0.080 2 181604002 missense variant G/A;T snv 5.2E-05; 5.2E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2008 2008
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: 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: rs61750173
rs61750173
0.827 0.080 17 8014701 missense variant G/A snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.700 1.000 1 2001 2001