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: rs199867882
rs199867882
IMPG2
1.000 0.080 3 101231117 stop gained G/A snv 3.6E-05 1.4E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs754995805
rs754995805
IMPG2
1.000 0.080 3 101232983 splice region variant -/TTCATCACCTAAAA delins 1.6E-05 4.2E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs770339774
rs770339774
IMPG2
1.000 0.080 3 101242782 frameshift variant G/- del
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1553681348
rs1553681348
IMPG2
1.000 0.080 3 101243905 stop gained C/T snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs786205564
rs786205564
IMPG2
1.000 0.080 3 101244057 stop gained C/T snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs267606874
rs267606874
IMPG2
0.925 0.080 3 101275694 stop gained G/C snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs201893545
rs201893545
IMPG2
0.925 0.080 3 101304277 missense variant A/G snv 6.4E-05 4.2E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs1553687058
rs1553687058
IMPG2
1.000 0.080 3 101319800 stop gained C/A snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs527236107
rs527236107
RP1L1
1.000 0.080 8 10612126 stop gained G/A snv 2.4E-05 1.4E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs377269054
rs377269054
RP1L1
1.000 0.080 8 10622967 missense variant G/A snv 1.4E-04 8.4E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs527236080
rs527236080
MAK ; TMEM14B
1.000 0.080 6 10803830 missense variant C/T snv 8.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs387906648
rs387906648
MAK ; TMEM14B
0.925 0.080 6 10803886 missense variant C/T snv 2.1E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs527236081
rs527236081
MAK ; TMEM14B
1.000 0.080 6 10803887 missense variant G/A snv 8.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs527236082
rs527236082
MAK ; TMEM14B
1.000 0.080 6 10813661 frameshift variant -/C delins 1.2E-05; 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs527236083
rs527236083
MERTK
1.000 0.080 2 111929283 frameshift variant A/- del 1.4E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs541717028
rs541717028
MERTK
0.925 0.080 2 112019497 stop gained C/T snv 8.0E-06 4.2E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2004 2004
dbSNP: rs746238212
rs746238212
MERTK
1.000 0.080 2 112019512 stop gained C/A;G;T snv 4.0E-06; 4.0E-06; 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 0
dbSNP: rs878853354
rs878853354
MERTK
1.000 0.080 2 112019513 missense variant G/A snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 1.000 1 2014 2014
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: 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: 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: 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: rs104893786
rs104893786
RHO
0.882 0.080 3 129528777 missense variant A/G snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.710 1.000 0 1998 1998
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: rs200946638
rs200946638
RHO
0.925 0.080 3 129528786 missense variant G/A;C snv 8.0E-05; 8.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.710 1.000 0 2019 2019