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: rs1562505728
rs1562505728
EYA4 ; TARID
1 1.000 0.120 6 133512884 stop gained C/G snv 0.700 1.000 4 2001 2015
dbSNP: rs143936434
rs143936434
EYA4
1 1.000 0.120 6 133483033 missense variant G/A snv 3.6E-05 1.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs797045088
rs797045088
EYA4 ; TARID
1 1.000 0.120 6 133525153 splice acceptor variant G/A snv 7.0E-06 0.700 1.000 1 2001 2001
dbSNP: rs1471362858
rs1471362858
EYA4
3 0.882 0.120 6 133462408 missense variant G/C snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs878853223
rs878853223
EYA4
1 1.000 0.120 6 133462336 frameshift variant C/- delins 0.700 0