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: rs773243225
rs773243225 		1.000 4 3532232 stop gained G/A snv 6.4E-06
CUI: C4751232
Disease: Rare isolated myopia
Rare isolated myopia 		0.700 1.000 3 2013 2016
dbSNP: rs1794429
rs1794429 		1.000 0.080 4 3531339 intron variant C/T snv 0.68
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs398122836
rs398122836 		1.000 4 3514899 frameshift variant GA/- del
CUI: C3809482
Disease: MYOPIA 23, AUTOSOMAL RECESSIVE
MYOPIA 23, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs786205127
rs786205127 		1.000 4 3518180 frameshift variant T/- delins
CUI: C3809482
Disease: MYOPIA 23, AUTOSOMAL RECESSIVE
MYOPIA 23, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs786205216
rs786205216 		1.000 4 3532214 frameshift variant G/- delins 1.3E-05
CUI: C3809482
Disease: MYOPIA 23, AUTOSOMAL RECESSIVE
MYOPIA 23, AUTOSOMAL RECESSIVE 		0.700 0