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: rs1555468632
rs1555468632
CLN3
0.925 0.160 16 28485963 splice donor variant TTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGAGA/- delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1554519635
rs1554519635
RP1
1.000 0.080 8 54626477 frameshift variant TT/- delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs398123538
rs398123538
IQCB1
0.882 0.200 3 121772605 frameshift variant TG/- delins 8.0E-05 7.0E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs794727197
rs794727197
CDHR1
1.000 0.080 10 84214557 frameshift variant TCTCTGA/- delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs137852284
rs137852284
RP2
0.925 0.080 X 46837115 inframe deletion TCC/- delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs1555961832
rs1555961832
RPGR
1.000 0.080 X 38286675 frameshift variant TC/- delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2002 2002
dbSNP: rs1555801989
rs1555801989
CRX
1.000 0.080 19 47839514 frameshift variant TC/- delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs761238771
rs761238771
EYS
0.925 0.080 6 64591511 frameshift variant TATAAGC/- delins 7.8E-05 1.0E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs869320726
rs869320726
RP1
0.925 0.080 8 54626162 frameshift variant TAAAT/- delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 1999 1999
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: rs745413794
rs745413794
CYP4V2 ; FLJ38576
0.925 0.080 4 186192020 missense variant T/G snv 4.1E-05 1.4E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2014 2014
dbSNP: rs863223340
rs863223340
RP1
1.000 0.080 8 54622180 missense variant T/G snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2015 2015
dbSNP: rs1057518949
rs1057518949
IMPDH1
1.000 0.080 7 128398560 missense variant T/G snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
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: rs1477733493
rs1477733493
CDHR1
1.000 0.080 10 84211689 stop gained T/G snv 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs61755800
rs61755800
PRPH2
0.882 0.080 6 42704559 missense variant T/C;G snv 8.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.710 1.000 1 1993 2008
dbSNP: rs752997229
rs752997229
PRPF8 ; RILP
1.000 0.080 17 1650882 missense variant T/C;G snv 4.0E-06 1.4E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2001 2001
dbSNP: rs527236119
rs527236119
USH2A
0.925 0.200 1 215782779 missense variant T/C;G snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs80338904
rs80338904
USH2A
0.882 0.200 1 215671085 missense variant T/C;G snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.710 1.000 0 2007 2007
dbSNP: rs1553812554
rs1553812554
PDE6B
1.000 0.080 4 660546 missense variant T/C snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2010 2010
dbSNP: rs1555558169
rs1555558169
SCAPER
0.925 0.080 15 76728739 splice acceptor variant T/C snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2017 2017
dbSNP: rs181169439
rs181169439
EYS
0.925 0.080 6 64388842 splice acceptor variant T/C snv 2.6E-05 7.7E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2011 2011
dbSNP: rs201471607
rs201471607
ABCA4
0.851 0.080 1 94046943 missense variant T/C snv 1.4E-04 7.7E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
dbSNP: rs62638633
rs62638633
RPGR
1.000 0.080 X 38321091 splice acceptor variant T/C snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2019 2019
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