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: rs397514652
rs397514652 		1.000 15 100887632 missense variant C/T snv 4.0E-06
CUI: C3554524
Disease: MICROPHTHALMIA, ISOLATED 8
MICROPHTHALMIA, ISOLATED 8 		0.800 1.000 7 2013 2014
dbSNP: rs397514653
rs397514653 		1.000 15 100914711 missense variant G/A;C snv 8.0E-06
CUI: C3554524
Disease: MICROPHTHALMIA, ISOLATED 8
MICROPHTHALMIA, ISOLATED 8 		0.800 1.000 7 2013 2014
dbSNP: rs386834230
rs386834230 		1.000 15 100887578 missense variant G/A snv 7.0E-06
CUI: C3554524
Disease: MICROPHTHALMIA, ISOLATED 8
MICROPHTHALMIA, ISOLATED 8 		0.700 1.000 7 2013 2014
dbSNP: rs754619607
rs754619607 		1.000 15 100892598 missense variant C/T snv 4.0E-06
CUI: C3554524
Disease: MICROPHTHALMIA, ISOLATED 8
MICROPHTHALMIA, ISOLATED 8 		0.700 1.000 7 2013 2014
dbSNP: rs78931658
rs78931658 		1.000 15 100892640 splice donor variant G/A;C;T snv 4.1E-06
CUI: C3554524
Disease: MICROPHTHALMIA, ISOLATED 8
MICROPHTHALMIA, ISOLATED 8 		0.700 0
dbSNP: rs797046134
rs797046134 		1.000 0.040 15 100914748 missense variant T/C snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 0