Gene: PAX2 ×
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: rs75462234
rs75462234
PAX2
4 0.851 0.160 10 100749772 frameshift variant G/-;GG;GGG delins 0.700 0
dbSNP: rs1131692055
rs1131692055
PAX2
2 0.925 0.080 10 100781314 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs753350907
rs753350907
PAX2
5 0.827 0.080 10 100806499 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013