Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1243762658
rs1243762658
TENM3
0.851 0.160 4 182754413 missense variant C/A;G snv 4.2E-06 7.0E-06
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.700 0
dbSNP: rs1554110735
rs1554110735
TFAP2A
0.776 0.200 6 10398693 frameshift variant TT/- delins
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.700 0
dbSNP: rs1554558365
rs1554558365
TMEM67
0.925 0.120 8 93804851 inframe insertion -/TATGAA delins
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.700 0
dbSNP: rs1554641549
rs1554641549
PUF60 ; SCRIB
0.925 0.080 8 143816613 frameshift variant TGGCCTTATGA/- delins
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.700 0
dbSNP: rs1555740394
rs1555740394
PRR12
0.882 0.120 19 49595234 frameshift variant -/ACCACCC delins
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.700 0
dbSNP: rs1555740650
rs1555740650
PRR12
0.807 0.240 19 49596253 stop gained G/T snv
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.700 0
dbSNP: rs1555741826
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.700 0
dbSNP: rs267607093
rs267607093
SRD5A3
0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.700 0
dbSNP: rs587783446
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.700 0
dbSNP: rs755000701
rs755000701
TENM3
0.851 0.160 4 182799938 missense variant C/T snv 9.2E-06 1.4E-05
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.700 0
dbSNP: rs765468645
rs765468645
TMEM67
0.882 0.160 8 93765413 stop gained C/T snv 8.0E-06 2.1E-05
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.700 0
dbSNP: rs74315439
rs74315439
CRYAA ; LOC107987300
0.790 0.200 21 43172104 missense variant C/A;T snv
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.010 1.000 1 2007 2007