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: rs1060505038
rs1060505038 		1.000 17 1513875 missense variant A/G snv 4.0E-06
CUI: C4479410
Disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY 		0.800 1.000 2 2017 2017
dbSNP: rs1060505039
rs1060505039 		1.000 17 1509784 start lost T/C snv
CUI: C4479410
Disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY 		0.800 1.000 2 2017 2017
dbSNP: rs749383757
rs749383757 		1.000 17 1509314 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C4479410
Disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY 		0.800 1.000 2 2017 2017
dbSNP: rs750781027
rs750781027 		1.000 17 1513957 missense variant C/A;T snv 8.0E-06; 8.0E-06
CUI: C4479410
Disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY 		0.800 1.000 2 2017 2017
dbSNP: rs761612652
rs761612652 		1.000 17 1498094 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C4479410
Disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY 		0.800 1.000 2 2017 2017
dbSNP: rs766046008
rs766046008 		1.000 17 1498000 missense variant T/C snv 4.0E-06
CUI: C4479410
Disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY 		0.800 0
dbSNP: rs939563
rs939563 		17 1512616 intron variant T/A snv 0.50
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs1060505040
rs1060505040 		1.000 17 1496098 frameshift variant GT/- delins
CUI: C4479410
Disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY 		0.700 0
dbSNP: rs993849342
rs993849342 		1.000 17 1496679 missense variant A/G snv
CUI: C4479410
Disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY 		0.700 0
dbSNP: rs1477800256
rs1477800256 		0.925 0.080 17 1509326 missense variant G/C snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1477800256
rs1477800256 		0.925 0.080 17 1509326 missense variant G/C snv
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015