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: rs797045224
rs797045224
AHI1
0.925 0.160 6 135433206 missense variant T/C snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs879255568
rs879255568
ARL2BP
0.925 0.080 16 57248536 splice acceptor variant G/A;C snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs771054395
rs771054395
ARL6
0.882 0.120 3 97784981 missense variant T/C snv 3.2E-05 2.1E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2013 2013
dbSNP: rs376894444
rs376894444
BBS1
0.925 0.120 11 66515586 missense variant G/A snv 2.8E-05 2.8E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2005 2005
dbSNP: rs549625604
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2006 2006
dbSNP: rs756632517
rs756632517
BBS10
0.925 0.120 12 76347395 missense variant T/C snv 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2006 2006
dbSNP: rs752762669
rs752762669
BBS12
0.925 0.120 4 122743422 inframe deletion CAGATGCAA/- delins 4.0E-05 8.4E-05
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: rs1555050487
rs1555050487
BBS1 ; ZDHHC24
1.000 0.080 11 66531967 frameshift variant A/- delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs121908175
rs121908175
BBS2
0.790 0.160 16 56519791 stop gained G/C snv 5.2E-05 2.8E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs770258677
rs770258677
BBS2
0.925 0.120 16 56506176 frameshift variant G/- delins 2.0E-05 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs121908179
rs121908179
BBS2
0.827 0.120 16 56514487 missense variant T/G snv 4.4E-05 2.8E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs138043021
rs138043021
BBS2
0.851 0.120 16 56496982 missense variant C/G;T snv 1.2E-04; 2.0E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs886039800
rs886039800
BBS4
0.851 0.240 15 72735944 frameshift variant G/- del
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs786205636
rs786205636
BBS5
0.827 0.320 2 169493750 missense variant G/A snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs749974697
rs749974697
BBS9
0.851 0.240 7 33152851 stop gained C/A;T snv 4.0E-06; 1.6E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs886039799
rs886039799
BBS9
0.763 0.320 7 33273896 frameshift variant C/- del
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs886039801
rs886039801
BBS9
0.851 0.240 7 33388145 splice donor variant G/A snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs267606676
rs267606676
BEST1 ; LOC107984334
0.925 0.080 11 61957432 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs1555099048
rs1555099048
BEST1 ; LOC107984334
1.000 0.080 11 61955752 inframe deletion AGTACGAGAACC/- delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs372989281
rs372989281
BEST1 ; LOC107984334
1.000 0.080 11 61958194 missense variant C/G;T snv 4.0E-06; 4.8E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs387907136
rs387907136
C8orf37 ; C8orf37-AS1
0.882 0.080 8 95247712 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs387907137
rs387907137
C8orf37 ; C8orf37-AS1
0.882 0.080 8 95247696 missense variant T/C snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
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: 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