Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137853290
rs137853290
RLBP1
3 0.882 0.040 15 89215133 missense variant C/G;T snv 8.0E-06; 8.0E-06 0.810 1.000 3 1997 2001
dbSNP: rs111033593
rs111033593
RDH5 ; BLOC1S1-RDH5
2 0.925 0.040 12 55724468 missense variant G/C snv 8.0E-06 7.0E-06 0.800 1.000 13 1999 2017
dbSNP: rs377029071
rs377029071
RDH5 ; BLOC1S1-RDH5
1 1.000 0.040 12 55721760 missense variant G/A snv 1.2E-05 2.1E-05 0.800 1.000 13 1999 2017
dbSNP: rs62638193
rs62638193
RDH5 ; BLOC1S1-RDH5
2 0.925 0.040 12 55724427 missense variant G/A;T snv 8.4E-05 0.800 1.000 6 1999 2004
dbSNP: rs62638191
rs62638191
RDH5 ; BLOC1S1-RDH5
2 0.925 0.040 12 55724028 missense variant G/A;C;T snv 4.1E-06; 2.2E-04 0.800 0
dbSNP: rs759359491
rs759359491
RDH5 ; BLOC1S1-RDH5
3 0.882 0.040 12 55721287 missense variant G/A;T snv 1.6E-05 0.710 1.000 14 1999 2017
dbSNP: rs104894373
rs104894373
RDH5 ; BLOC1S1-RDH5
4 0.851 0.080 12 55721908 missense variant T/G snv 8.1E-06 0.710 0.923 13 1999 2017
dbSNP: rs758411232
rs758411232
RDH5 ; BLOC1S1-RDH5
2 0.925 0.040 12 55721902 missense variant A/G;T snv 4.0E-06; 8.1E-06 0.710 1.000 1 2015 2015
dbSNP: rs104894374
rs104894374
RDH5 ; BLOC1S1-RDH5
2 0.925 0.040 12 55721847 missense variant C/A;T snv 4.0E-06; 4.4E-05 0.700 1.000 13 1999 2017
dbSNP: rs62638185
rs62638185
RDH5 ; BLOC1S1-RDH5
2 0.925 0.040 12 55721402 missense variant C/T snv 4.0E-06 0.700 1.000 13 1999 2017
dbSNP: rs62638187
rs62638187
RDH5 ; BLOC1S1-RDH5
1 1.000 0.040 12 55721772 missense variant G/A;C;T snv 2.0E-05; 4.0E-06; 1.2E-05 0.700 1.000 13 1999 2017
dbSNP: rs755168439
rs755168439
RDH5 ; BLOC1S1-RDH5
1 1.000 0.040 12 55721868 missense variant G/A;T snv 1.2E-05 0.700 1.000 13 1999 2017
dbSNP: rs781112960
rs781112960
RDH5 ; BLOC1S1-RDH5
1 1.000 0.040 12 55721914 missense variant A/C;G snv 8.1E-06; 2.8E-05 0.700 1.000 13 1999 2017
dbSNP: rs774122562
rs774122562
RDH5 ; BLOC1S1-RDH5
1 1.000 0.040 12 55721469 stop gained G/A snv 2.8E-05 0.700 1.000 4 2001 2012
dbSNP: rs137853291
rs137853291
RLBP1
4 0.851 0.080 15 89211750 missense variant A/T snv 4.4E-05 2.8E-05 0.700 1.000 3 1997 2001
dbSNP: rs104893768
rs104893768
RHO
11 0.807 0.080 3 129528801 missense variant C/A snv 0.700 0
dbSNP: rs1565653781
rs1565653781
RDH5 ; BLOC1S1-RDH5
1 1.000 0.040 12 55720518 splice donor variant -/T delins 0.700 0
dbSNP: rs62638194
rs62638194
RDH5 ; BLOC1S1-RDH5
2 0.925 0.040 12 55724429 missense variant T/C;G snv 0.700 0
dbSNP: rs765993603
rs765993603
RDH5 ; BLOC1S1-RDH5
1 1.000 0.040 12 55721691 missense variant C/A;G snv 4.1E-06; 8.2E-06 0.700 0
dbSNP: rs769035379
rs769035379
RDH5 ; BLOC1S1-RDH5
1 1.000 0.040 12 55721344 stop gained C/T snv 3.6E-05 1.4E-05 0.700 0
dbSNP: rs780377973
rs780377973
RDH5 ; BLOC1S1-RDH5
1 1.000 0.040 12 55724346 missense variant T/G snv 8.0E-05 1.4E-05 0.700 0