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 0.800 1.000 2 2007 2009
dbSNP: rs28937873
rs28937873
NR2E3
7 0.807 0.160 15 71813573 missense variant G/A snv 4.0E-04 3.1E-04 0.700 1.000 9 2000 2013
dbSNP: rs1555454566
rs1555454566
NR2E3
3 0.882 0.160 15 71811553 inframe deletion ACGGCTGCA/- delins 0.700 1.000 7 2000 2016
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 6 2000 2014
dbSNP: rs1567160967
rs1567160967
NR2E3
1 1.000 0.080 15 71814051 frameshift variant TGCAG/- del 0.700 0
dbSNP: rs730882149
rs730882149
NR2E3
1 1.000 0.080 15 71811507 frameshift variant GC/AGTGTGCCTCCAGTGCCTCGCTCCA delins 0.700 0