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: rs11104947
rs11104947
KITLG
1 1.000 0.040 12 88549203 intron variant G/A snv 1.2E-02 0.010 1.000 1 2009 2009
dbSNP: rs1135216
rs1135216
PSMB9 ; TAP1
6 0.807 0.200 6 32847198 missense variant T/C snv 0.17 0.18 0.010 1.000 1 2014 2014
dbSNP: rs11966200
rs11966200
CYP21A2 ; SLC44A4
4 0.851 0.040 6 31869289 intron variant C/T snv 2.9E-02 4.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs13866
rs13866
CLEC11A
2 1.000 0.040 19 50725489 3 prime UTR variant C/T snv 0.30 0.23 0.010 1.000 1 2009 2009
dbSNP: rs17587
rs17587
PSMB9
8 0.807 0.280 6 32857313 missense variant G/A;T snv 0.24; 4.1E-06; 4.1E-06 0.010 1.000 1 2014 2014