Disease: ANTERIOR SEGMENT DYSGENESIS 5 ×
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: rs1064792896
rs1064792896 		0.925 0.040 2 38071279 frameshift variant CTGCCTGCACTCG/- del
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 1.000 1 1997 1997
dbSNP: rs587778873
rs587778873 		0.925 0.040 2 38071145 frameshift variant TGGCATGAGG/-;TGGCATGAGGTGGCATGAGG delins
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 0
dbSNP: rs72549387
rs72549387 		0.790 0.120 2 38075218 stop gained C/G;T snv 1.7E-04
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 0