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: rs12122803
rs12122803
1 1 169825364 intron variant A/G snv 1.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs185120584
rs185120584
1 1 169689987 intron variant C/T snv 7.6E-03 0.700 1.000 1 2019 2019
dbSNP: rs1458766475
rs1458766475
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs5361
rs5361
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.010 1.000 1 2006 2006