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: rs370761964
rs370761964
OTX2
1 1.000 14 56801931 missense variant T/C snv 1.6E-05 2.8E-05 0.800 1.000 2 2008 2012
dbSNP: rs199761861
rs199761861
OTX2
2 0.925 0.080 14 56802204 missense variant G/C;T snv 2.1E-04; 1.6E-05 0.700 1.000 2 2008 2012