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: rs186571865
rs186571865
RP1
1.000 0.080 8 54622111 splice region variant T/C snv 5.0E-03 4.5E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs76157638
rs76157638
ABCA4
0.851 0.080 1 94051698 missense variant C/G;T snv 4.4E-03; 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs112029032
rs112029032
HGSNAT
0.882 0.160 8 43199504 missense variant G/A snv 4.1E-03 3.6E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.710 1.000 0 2015 2015
dbSNP: rs35689081
rs35689081
MYO7A
0.851 0.200 11 77142783 stop gained C/A;T snv 3.7E-05; 3.6E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs41292677
rs41292677
ABCA4
0.882 0.080 1 94001992 missense variant C/G snv 3.0E-03 3.0E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs181255269
rs181255269
CDH23
0.925 0.200 10 71694233 missense variant C/T snv 2.2E-03 8.8E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs112822256
rs112822256
EYS
1.000 0.080 6 65405253 missense variant C/T snv 1.8E-03 3.7E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs61751374
rs61751374
ABCA4
0.776 0.160 1 94043413 missense variant G/A snv 1.7E-03 1.7E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.710 1.000 1 2008 2019
dbSNP: rs1800552
rs1800552
ABCA4
0.851 0.080 1 94010821 missense variant C/T snv 1.6E-03 1.5E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs397517328
rs397517328
CDH23 ; CDH23-AS1
1.000 0.080 10 71511216 splice region variant G/A snv 1.5E-03 3.1E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 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: rs35818432
rs35818432
USH2A
0.925 0.200 1 216292352 missense variant G/C snv 1.3E-03 7.8E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs201499815
rs201499815
PHYH
1.000 0.080 10 13288355 splice region variant C/A snv 1.2E-03 5.7E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2004 2004
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: rs140630401
rs140630401
IQCB1
1.000 0.080 3 121772683 missense variant C/T snv 1.1E-03 1.4E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 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: 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: rs41315579
rs41315579
USH2A
1.000 0.080 1 215900872 missense variant G/A snv 8.4E-04 1.9E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs80338903
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 2 1998 2019
dbSNP: rs528919874
rs528919874
PHF3 ; EYS
0.925 0.080 6 63721376 frameshift variant CTGCATGT/- delins 7.5E-04 6.7E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs199740930
rs199740930
EYS
0.925 0.080 6 65057613 splice donor variant C/T snv 7.4E-04 3.4E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs755246809
rs755246809
AHI1
0.827 0.280 6 135404951 frameshift variant T/- delins 5.9E-04 4.9E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs199605265
rs199605265
USH2A
0.882 0.200 1 215675336 missense variant C/T snv 5.9E-04 4.5E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2010 2010
dbSNP: rs2723341
rs2723341
NR2E3
0.807 0.160 15 71811481 splice acceptor variant A/C snv 5.3E-04 5.1E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs202210819
rs202210819
KIZ
0.882 0.080 20 21136463 stop gained C/T snv 4.9E-04 3.1E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0