Gene: PDE6B ×
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: rs727504075
rs727504075
PDE6B
2 0.925 0.080 4 664945 splice donor variant G/A;T snv 7.2E-05; 4.0E-06 0.700 1.000 3 1995 2019
dbSNP: rs370898371
rs370898371
PDE6B ; PDE6B-AS1
1 1.000 0.080 4 656295 splice region variant A/G;T snv 3.6E-05 0.700 1.000 2 2012 2019
dbSNP: rs555600300
rs555600300
PDE6B
2 0.925 0.080 4 625925 missense variant G/A snv 6.0E-05 2.8E-05 0.700 1.000 2 2012 2015
dbSNP: rs121918579
rs121918579
PDE6B ; PDE6B-AS1
2 0.925 0.080 4 654119 stop gained C/T snv 4.4E-05 5.6E-05 0.700 1.000 1 1993 1993
dbSNP: rs1553812554
rs1553812554
PDE6B
1 1.000 0.080 4 660546 missense variant T/C snv 0.700 1.000 1 2010 2010
dbSNP: rs201541131
rs201541131
PDE6B
2 0.925 0.080 4 662197 missense variant C/T snv 1.5E-05 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs527236091
rs527236091
PDE6B
1 1.000 0.080 4 660575 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs760766981
rs760766981
PDE6B
2 0.925 0.080 4 660579 missense variant T/C snv 6.8E-05 2.1E-05 0.700 1.000 1 1995 1995
dbSNP: rs863223339
rs863223339
PDE6B ; PDE6B-AS1
1 1.000 0.080 4 656244 splice acceptor variant G/A;T snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs869312177
rs869312177
PDE6B
2 0.925 0.080 4 663772 frameshift variant CCTGAACATCTACCAGAACCTGAACCGGCGGCAGCACGAGCACGTGA/TCTGGG delins 0.700 1.000 1 2019 2019
dbSNP: rs121918581
rs121918581
PDE6B
2 0.925 0.080 4 662188 missense variant C/T snv 3.0E-05 0.700 0
dbSNP: rs1360937549
rs1360937549
PDE6B
1 1.000 0.080 4 660481 frameshift variant -/G delins 7.0E-06 0.700 0
dbSNP: rs527236088
rs527236088
PDE6B
3 0.882 0.080 4 660603 missense variant T/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs527236089
rs527236089
PDE6B
1 1.000 0.080 4 659018 splice donor variant G/C snv 8.0E-06 0.700 0
dbSNP: rs527236090
rs527236090
PDE6B ; PDE6B-AS1
1 1.000 0.080 4 655939 splice acceptor variant G/C snv 0.700 0
dbSNP: rs781003757
rs781003757
PDE6B
1 1.000 0.080 4 625627 start lost A/G snv 2.4E-05 0.700 0
dbSNP: rs876657718
rs876657718
PDE6B
2 1.000 0.080 4 625917 stop gained C/A snv 9.0E-06 0.700 0
dbSNP: rs970990957
rs970990957
PDE6B
1 1.000 0.080 4 667898 stop gained C/T snv 0.700 0
dbSNP: rs121918582
rs121918582
PDE6B ; PDE6B-AS1
3 0.882 0.080 4 653912 missense variant C/A snv 0.010 1.000 1 2007 2007