PDE6B, phosphodiesterase 6B, 5158

N. diseases: 64; N. variants: 37
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1212998897
rs1212998897 		1.000 4 634791 stop gained A/G;T snv 2.1E-05
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.700 0
dbSNP: rs121918579
rs121918579 		0.925 0.080 4 654119 stop gained C/T snv 4.4E-05 5.6E-05
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.700 0
dbSNP: rs121918580
rs121918580 		1.000 4 660590 stop gained C/G;T snv 8.0E-06; 8.0E-06
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.700 0
dbSNP: rs121918581
rs121918581 		0.925 0.080 4 662188 missense variant C/T snv 3.0E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121918583
rs121918583 		1.000 4 667922 missense variant T/A;C snv 4.0E-06
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.700 0
dbSNP: rs1360937549
rs1360937549 		1.000 0.080 4 660481 frameshift variant -/G delins 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1553801591
rs1553801591 		1.000 4 625794 frameshift variant -/ACGGCGCTGCTGGAGCTGGTGCAGGATATGCAGGAGAGCATCAACATGGAGCGCGTGGTCTTCAAGGTCCT delins
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.700 0
dbSNP: rs1560121685
rs1560121685 		1.000 4 655987 frameshift variant -/CG delins
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.700 0
dbSNP: rs1560122302
rs1560122302 		1.000 4 656293 splice donor variant -/T delins
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.700 0
dbSNP: rs1560134806
rs1560134806 		1.000 4 663772 frameshift variant CCTGAACATCTACCAGAACCTGAACCGGCGGCAGCACGAGCACGTGATC/TCTGGGTA delins
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.700 0
dbSNP: rs201541131
rs201541131 		0.925 0.080 4 662197 missense variant C/T snv 1.5E-05 7.0E-06
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.700 0
dbSNP: rs370758397
rs370758397 		1.000 4 662619 splice donor variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.700 0
dbSNP: rs527236088
rs527236088 		0.882 0.080 4 660603 missense variant T/A snv 4.0E-06 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs527236088
rs527236088 		0.882 0.080 4 660603 missense variant T/A snv 4.0E-06 7.0E-06
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.700 0
dbSNP: rs527236089
rs527236089 		1.000 0.080 4 659018 splice donor variant G/C snv 8.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs527236090
rs527236090 		1.000 0.080 4 655939 splice acceptor variant G/C snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs62295357
rs62295357 		1.000 4 635913 missense variant T/C snv 4.4E-03 4.6E-03
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.700 0
dbSNP: rs727504075
rs727504075 		0.925 0.080 4 664945 splice donor variant G/A;T snv 7.2E-05; 4.0E-06
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.700 0
dbSNP: rs730880317
rs730880317 		1.000 4 660485 frameshift variant C/-;CC delins
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.700 0
dbSNP: rs746141070
rs746141070 		1.000 4 653977 frameshift variant C/- del 7.0E-06
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.700 0
dbSNP: rs781003757
rs781003757 		1.000 0.080 4 625627 start lost A/G snv 2.4E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs876657718
rs876657718 		1.000 0.080 4 625917 stop gained C/A snv 9.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs876657718
rs876657718 		1.000 0.080 4 625917 stop gained C/A snv 9.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs970990957
rs970990957 		1.000 0.080 4 667898 stop gained C/T snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121918581
rs121918581 		0.925 0.080 4 662188 missense variant C/T snv 3.0E-05
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.800 1.000 7 1993 2012