RGR, retinal G protein coupled receptor, 5995

N. diseases: 43; N. variants: 5
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: rs104894187
rs104894187 		1.000 10 84247707 missense variant A/C snv 3.2E-05 2.1E-05
CUI: C3151068
Disease: RETINITIS PIGMENTOSA 44
RETINITIS PIGMENTOSA 44 		0.700 1.000 1 1999 1999
dbSNP: rs10887265
rs10887265 		1.000 0.040 10 84255817 intron variant G/C snv 0.48
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1554824273
rs1554824273 		10 84258712 3 prime UTR variant -/G delins
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 1999 1999
dbSNP: rs1405414838
rs1405414838 		0.925 0.040 10 84232835 missense variant C/T snv
CUI: C2940786
Disease: Thyroid Hormone Resistance Syndrome
Thyroid Hormone Resistance Syndrome 		Endocrine System Diseases 0.010 1.000 1 1996 1996
dbSNP: rs1405414838
rs1405414838 		0.925 0.040 10 84232835 missense variant C/T snv
CUI: C4722330
Disease: Generalized Thyroid Hormone Resistance
Generalized Thyroid Hormone Resistance 		Endocrine System Diseases 0.010 1.000 1 1996 1996
dbSNP: rs747435661
rs747435661 		1.000 0.040 10 84248939 stop gained C/A;G;T snv 1.6E-05; 4.8E-05; 1.2E-05
CUI: C0271183
Disease: Severe myopia
Severe myopia 		Eye Diseases 0.010 1.000 1 2016 2016