Gene: LCA5 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs766143193
rs766143193
LCA5 ; LOC100506851
1 1.000 0.040 6 79487422 stop gained G/A;T snv 3.2E-05 0.700 1.000 1 2013 2013
dbSNP: rs866395428
rs866395428
LCA5
3 1.000 0.040 6 79493633 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs121918165
rs121918165
LCA5
2 0.925 0.040 6 79493636 stop gained G/A snv 1.2E-04 5.6E-05 0.700 0
dbSNP: rs386834252
rs386834252
LCA5 ; LOC100506851
2 0.925 0.040 6 79489164 frameshift variant G/- delins 4.0E-06 0.700 0
dbSNP: rs386834253
rs386834253
LCA5 ; LOC100506851
2 0.925 0.040 6 79487621 frameshift variant -/T delins 0.700 0