Gene: NR2E3 ×
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: rs121912631
rs121912631
NR2E3
4 0.851 0.080 15 71811530 missense variant G/A;T snv 0.720 1.000 3 2009 2019
dbSNP: rs28937873
rs28937873
NR2E3
7 0.807 0.160 15 71813573 missense variant G/A snv 4.0E-04 3.1E-04 0.710 1.000 2 2009 2019
dbSNP: rs2723341
rs2723341
NR2E3
8 0.807 0.160 15 71811481 splice acceptor variant A/C snv 5.3E-04 5.1E-04 0.700 1.000 1 2019 2019
dbSNP: rs368098126
rs368098126
NR2E3
1 1.000 0.080 15 71812410 missense variant G/A snv 3.6E-05 5.6E-05 0.700 1.000 1 2019 2019
dbSNP: rs1555454566
rs1555454566
NR2E3
3 0.882 0.160 15 71811553 inframe deletion ACGGCTGCA/- delins 0.700 0
dbSNP: rs766096417
rs766096417
NR2E3
3 0.925 0.160 15 71811831 missense variant G/A snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs1223029749
rs1223029749
NR2E3
2 0.925 0.080 15 71812102 missense variant C/G snv 6.2E-06 7.0E-06 0.010 1.000 1 2009 2009