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: 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
dbSNP: rs121918582
rs121918582 		0.882 0.080 4 653912 missense variant C/A snv
CUI: C1876182
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2
NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 1 1994 1994
dbSNP: rs144590560
rs144590560 		1.000 4 625846 missense variant C/T snv 5.3E-04 4.5E-04
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.700 1.000 7 1993 2012
dbSNP: rs555600300
rs555600300 		0.925 0.080 4 625925 missense variant G/A snv 6.0E-05 2.8E-05
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.700 1.000 7 1993 2012
dbSNP: rs751859807
rs751859807 		1.000 4 662174 missense variant G/A snv 2.0E-05 2.1E-05
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.700 1.000 7 1993 2012
dbSNP: rs760766981
rs760766981 		0.925 0.080 4 660579 missense variant T/C snv 6.8E-05 2.1E-05
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.700 1.000 7 1993 2012
dbSNP: rs727504075
rs727504075 		0.925 0.080 4 664945 splice donor variant G/A;T snv 7.2E-05; 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 3 1995 2019
dbSNP: rs370898371
rs370898371 		1.000 0.080 4 656295 splice region variant A/G;T snv 3.6E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2012 2019
dbSNP: rs555600300
rs555600300 		0.925 0.080 4 625925 missense variant G/A snv 6.0E-05 2.8E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 2012 2015
dbSNP: rs121918579
rs121918579 		0.925 0.080 4 654119 stop gained C/T snv 4.4E-05 5.6E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 1993 1993
dbSNP: rs1553812554
rs1553812554 		1.000 0.080 4 660546 missense variant T/C snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2010 2010
dbSNP: rs201541131
rs201541131 		0.925 0.080 4 662197 missense variant C/T snv 1.5E-05 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2015 2015
dbSNP: rs35476224
rs35476224 		4 597684 intron variant T/A snv 4.9E-02
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs35476224
rs35476224 		4 597684 intron variant T/A snv 4.9E-02
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs527236091
rs527236091 		1.000 0.080 4 660575 missense variant G/A snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs758052437
rs758052437 		1.000 4 663143 stop gained G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs760766981
rs760766981 		0.925 0.080 4 660579 missense variant T/C snv 6.8E-05 2.1E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 1995 1995
dbSNP: rs863223339
rs863223339 		1.000 0.080 4 656244 splice acceptor variant G/A;T snv 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2015 2015
dbSNP: rs869312177
rs869312177 		0.925 0.080 4 663772 frameshift variant CCTGAACATCTACCAGAACCTGAACCGGCGGCAGCACGAGCACGTGA/TCTGGG delins
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs869312177
rs869312177 		0.925 0.080 4 663772 frameshift variant CCTGAACATCTACCAGAACCTGAACCGGCGGCAGCACGAGCACGTGA/TCTGGG delins
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		0.700 1.000 1 2016 2016
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