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: rs121909398
rs121909398
CERKL
0.827 0.080 2 181558617 stop gained G/A;C snv 3.5E-04; 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.730 1.000 6 2004 2019
dbSNP: rs147394623
rs147394623
DHDDS
0.882 0.080 1 26438228 missense variant A/G snv 2.3E-04 1.5E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.740 1.000 6 2011 2018
dbSNP: rs200691042
rs200691042
FAM161A
0.851 0.080 2 61839695 stop gained T/A snv 2.8E-04 2.9E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 6 2010 2019
dbSNP: rs62625014
rs62625014
CNGA1 ; NIPAL1 ; LOC101927157
0.851 0.080 4 47937535 missense variant G/A;C snv 1.1E-03; 2.4E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 4 1995 2019
dbSNP: rs189234741
rs189234741
CNGB1
0.925 0.080 16 57962611 splice acceptor variant C/G;T snv 4.0E-06; 7.2E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 3 2011 2015
dbSNP: rs201162411
rs201162411
CNGB1
1.000 0.080 16 57901371 missense variant T/A snv 1.1E-03 1.1E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 3 2011 2019
dbSNP: rs727504075
rs727504075
PDE6B
0.925 0.080 4 664945 splice donor variant G/A;T snv 7.2E-05; 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 3 1995 2019
dbSNP: rs1003869920
rs1003869920
USH2A
0.925 0.080 1 215674335 stop gained G/A snv 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 2 2011 2019
dbSNP: rs104894559
rs104894559
CA4
0.882 0.200 17 60150074 missense variant C/T snv 2.5E-04 1.4E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.710 1.000 2 2004 2005
dbSNP: rs111033364
rs111033364
USH2A
0.807 0.200 1 215728232 stop gained C/T snv 9.2E-05 1.2E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 2 2004 2019
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 2 2002 2019
dbSNP: rs139444207
rs139444207
PDE6A
0.925 0.080 5 149895206 missense variant G/T snv 1.2E-04 1.5E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 2 1999 2010
dbSNP: rs141252097
rs141252097
PDE6A
0.925 0.080 5 149944370 missense variant G/A;T snv 2.4E-05; 1.7E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 2 1999 2015
dbSNP: rs370898371
rs370898371
PDE6B ; PDE6B-AS1
1.000 0.080 4 656295 splice region variant A/G;T snv 3.6E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 2 2012 2019
dbSNP: rs527236139
rs527236139
USH2A
0.882 0.200 1 215759735 missense variant C/A;T snv 4.0E-06; 5.6E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 2 2014 2019
dbSNP: rs555600300
rs555600300
PDE6B
0.925 0.080 4 625925 missense variant G/A snv 6.0E-05 2.8E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 2 2012 2015
dbSNP: rs61751392
rs61751392
ABCA4
0.827 0.080 1 94063250 missense variant A/G snv 1.5E-04 1.7E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 2 1998 2019
dbSNP: rs750396156
rs750396156
USH2A
0.882 0.200 1 215675337 missense variant G/A snv 3.2E-05 3.5E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 2 2013 2019
dbSNP: rs775557680
rs775557680
RHO
0.882 0.080 3 129532261 missense variant G/A;C snv 8.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.730 1.000 2 1991 2019
dbSNP: rs80338902
rs80338902
USH2A
0.790 0.200 1 216247118 missense variant C/A snv 9.7E-04 1.3E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.750 1.000 2 2000 2019
dbSNP: rs104893769
rs104893769
RHO
0.807 0.160 3 129528783 missense variant C/T snv 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.750 1.000 1 2014 2019
dbSNP: rs104893773
rs104893773
RHO
0.882 0.080 3 129529049 missense variant G/A;T snv 1.6E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.720 1.000 1 1999 2019
dbSNP: rs104893775
rs104893775
RHO
0.807 0.160 3 129530917 missense variant C/T snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.730 1.000 1 2006 2019
dbSNP: rs104893776
rs104893776
RHO
0.925 0.080 3 129532253 missense variant A/G snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs104893779
rs104893779
RHO
0.851 0.080 3 129532288 missense variant G/A;T snv 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.720 1.000 1 1993 2013