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: rs104894476
rs104894476
1.000 0.040 14 67729220 missense variant C/G snv
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13
Eye Diseases 0.800 1.000 2 2004 2004
dbSNP: rs28940313
rs28940313
1.000 0.040 14 67729209 splice donor variant A/G snv 7.0E-06
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13
Eye Diseases 0.800 1.000 2 2004 2004
dbSNP: rs386834261
rs386834261
0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13
Eye Diseases 0.700 1.000 5 2005 2015
dbSNP: rs1239043055
rs1239043055
0.925 0.080 14 67729248 missense variant G/A;T snv 8.1E-06; 4.0E-06
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13
Eye Diseases 0.700 1.000 2 2005 2014