Source: CURATED ×
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: rs1555350254
rs1555350254
OTX2
1 1.000 0.080 14 56802333 missense variant G/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1560264452
rs1560264452
SOX2 ; SOX2-OT
5 0.851 0.200 3 181712745 frameshift variant GG/- del 0.700 0