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: rs368217569
rs368217569 		0.925 0.080 13 49549584 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C4310680
Disease: RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES 		0.800 1.000 1 2016 2016
dbSNP: rs1570884
rs1570884 		13 49547375 intron variant A/G snv 0.58
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs1570884
rs1570884 		13 49547375 intron variant A/G snv 0.58
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs1570884
rs1570884 		13 49547375 intron variant A/G snv 0.58
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs1570884
rs1570884 		13 49547375 intron variant A/G snv 0.58
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		0.700 1.000 1 2016 2016
dbSNP: rs200826424
rs200826424 		0.882 0.080 13 49549530 missense variant G/A snv 1.4E-04 1.6E-04
CUI: C4310680
Disease: RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES 		0.700 1.000 1 2016 2016
dbSNP: rs200826424
rs200826424 		0.882 0.080 13 49549530 missense variant G/A snv 1.4E-04 1.6E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs368217569
rs368217569 		0.925 0.080 13 49549584 missense variant C/T snv 1.2E-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 2016 2016
dbSNP: rs556664001
rs556664001 		1.000 13 49541798 missense variant G/A snv 3.2E-05 2.1E-05
CUI: C4310680
Disease: RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES 		0.700 1.000 1 2016 2016
dbSNP: rs66645127
rs66645127 		13 49549135 intron variant AAA/-;A;AA;AAAA;AAAAAA delins 0.64
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs66645127
rs66645127 		13 49549135 intron variant AAA/-;A;AA;AAAA;AAAAAA delins 0.64
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
dbSNP: rs772592456
rs772592456 		0.882 0.080 13 49549573 missense variant C/A snv 8.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs772592456
rs772592456 		0.882 0.080 13 49549573 missense variant C/A snv 8.0E-06
CUI: C4310680
Disease: RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES 		0.700 1.000 1 2016 2016
dbSNP: rs7996207
rs7996207 		13 49548545 intron variant G/A;C snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs879255547
rs879255547 		0.925 0.080 13 49544745 missense variant C/A snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs879255547
rs879255547 		0.925 0.080 13 49544745 missense variant C/A snv
CUI: C4310680
Disease: RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES 		0.700 1.000 1 2016 2016
dbSNP: rs143970072
rs143970072 		1.000 13 49544758 missense variant T/C snv 9.6E-05 4.2E-05
CUI: C4310680
Disease: RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES 		0.700 0
dbSNP: rs200826424
rs200826424 		0.882 0.080 13 49549530 missense variant G/A snv 1.4E-04 1.6E-04
CUI: C4310880
Disease: RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES
RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES 		0.700 0
dbSNP: rs772592456
rs772592456 		0.882 0.080 13 49549573 missense variant C/A snv 8.0E-06
CUI: C4310880
Disease: RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES
RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES 		0.700 0
dbSNP: rs777630688
rs777630688 		1.000 0.080 13 49552182 frameshift variant T/- delins 1.1E-04 3.5E-05
CUI: C0154832
Disease: Exudative retinopathy
Exudative retinopathy 		Eye Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs869312819
rs869312819 		0.925 0.080 13 49544736 splice donor variant C/T snv 4.0E-06
CUI: C0339539
Disease: Familial Exudative Vitreoretinopathy
Familial Exudative Vitreoretinopathy 		0.700 0
dbSNP: rs869312819
rs869312819 		0.925 0.080 13 49544736 splice donor variant C/T snv 4.0E-06
CUI: C0154832
Disease: Exudative retinopathy
Exudative retinopathy 		Eye Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs16659
rs16659 		1.000 0.080 13 49533071 3 prime UTR variant GAAAGATGATAAAGT/-;GAAAGATGATAAAGTGAAAGATGATAAAGT delins
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs7329797
rs7329797 		0.925 0.080 13 49572410 intron variant A/C snv 3.1E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs7329797
rs7329797 		0.925 0.080 13 49572410 intron variant A/C snv 3.1E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014