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: rs747126705
rs747126705
PITX2
1 1.000 0.080 4 110618292 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1131692289
rs1131692289
PAX6
2 0.925 0.080 11 31802705 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs759557055
rs759557055
PAX6
2 0.925 0.120 11 31801704 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs763807196
rs763807196
PAX6
1 1.000 0.080 11 31801744 synonymous variant G/A snv 0.010 1.000 1 2019 2019