NIPAL1, NIPA like domain containing 1, 152519

N. diseases: 17; N. variants: 17
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: rs62625014
rs62625014 		0.851 0.080 4 47937535 missense variant G/A;C snv 1.1E-03; 2.4E-05
CUI: C3151059
Disease: RETINITIS PIGMENTOSA 49
RETINITIS PIGMENTOSA 49 		0.800 1.000 2 1995 2004
dbSNP: rs62625014
rs62625014 		0.851 0.080 4 47937535 missense variant G/A;C snv 1.1E-03; 2.4E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 4 1995 2019
dbSNP: rs527236058
rs527236058 		0.925 0.080 4 47951398 frameshift variant C/- delins 2.0E-05
CUI: C3151059
Disease: RETINITIS PIGMENTOSA 49
RETINITIS PIGMENTOSA 49 		0.700 1.000 2 1995 2014
dbSNP: rs749012133
rs749012133 		1.000 4 47949867 frameshift variant G/- del 1.1E-04 3.5E-05
CUI: C3151059
Disease: RETINITIS PIGMENTOSA 49
RETINITIS PIGMENTOSA 49 		0.700 1.000 2 1995 2013
dbSNP: rs11733284
rs11733284 		0.925 0.120 4 48026080 intron variant G/A;C snv
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs11733284
rs11733284 		0.925 0.120 4 48026080 intron variant G/A;C snv
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs142274555
rs142274555 		1.000 4 48034600 intron variant T/C snv 3.3E-04
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		Neoplasms 0.700 1.000 1 2018 2018
dbSNP: rs142274555
rs142274555 		1.000 4 48034600 intron variant T/C snv 3.3E-04
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.700 1.000 1 2018 2018
dbSNP: rs199584830
rs199584830 		1.000 0.080 4 47936954 stop gained G/A snv 5.2E-05 4.9E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2015 2015
dbSNP: rs4695314
rs4695314 		1.000 0.080 4 47930644 intron variant G/A snv 4.6E-02
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs567961453
rs567961453 		1.000 0.080 4 47936816 stop gained G/A;T snv 8.0E-06; 1.6E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2015 2015
dbSNP: rs62625014
rs62625014 		0.851 0.080 4 47937535 missense variant G/A;C snv 1.1E-03; 2.4E-05
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs62625014
rs62625014 		0.851 0.080 4 47937535 missense variant G/A;C snv 1.1E-03; 2.4E-05
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs98270
rs98270 		4 48017306 intron variant G/A snv 0.33
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs121909599
rs121909599 		1.000 4 47949894 stop gained C/A;T snv 1.2E-05
CUI: C3151059
Disease: RETINITIS PIGMENTOSA 49
RETINITIS PIGMENTOSA 49 		0.700 0
dbSNP: rs121909600
rs121909600 		1.000 4 47943203 stop gained T/A snv
CUI: C3151059
Disease: RETINITIS PIGMENTOSA 49
RETINITIS PIGMENTOSA 49 		0.700 0
dbSNP: rs199584830
rs199584830 		1.000 0.080 4 47936954 stop gained G/A snv 5.2E-05 4.9E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs199636364
rs199636364 		0.882 0.080 4 47952608 stop gained G/A snv 7.2E-05 6.3E-05
CUI: C3151059
Disease: RETINITIS PIGMENTOSA 49
RETINITIS PIGMENTOSA 49 		0.700 0
dbSNP: rs199636364
rs199636364 		0.882 0.080 4 47952608 stop gained G/A snv 7.2E-05 6.3E-05
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 0
dbSNP: rs199636364
rs199636364 		0.882 0.080 4 47952608 stop gained G/A snv 7.2E-05 6.3E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs375412499
rs375412499 		1.000 0.080 4 47937655 missense variant C/T snv 3.2E-05 3.5E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs527236057
rs527236057 		1.000 0.080 4 47936861 missense variant C/T snv 8.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs527236058
rs527236058 		0.925 0.080 4 47951398 frameshift variant C/- delins 2.0E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs527236059
rs527236059 		1.000 0.080 4 47937505 missense variant T/C snv 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1436425494
rs1436425494 		1.000 0.080 4 47949886 stop gained G/T snv 4.0E-06
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2016 2016