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: rs28940578
rs28940578
MEFV
16 0.716 0.400 16 3243405 missense variant C/T snv 1.4E-04 6.3E-05 0.010 1.000 1 2010 2010
dbSNP: rs751713049
rs751713049
SRSF2 ; MFSD11 ; MIR636
5 0.851 0.200 17 76736877 missense variant G/A;C;T snv 6.3E-05; 2.9E-05; 1.2E-04 0.010 1.000 1 2018 2018
dbSNP: rs762622506
rs762622506
BCOR
3 0.925 0.080 X 40074459 missense variant C/A;T snv 6.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs867679539
rs867679539
BCORL1
3 0.925 0.080 X 130013883 missense variant A/C snv 0.010 1.000 1 2018 2018
dbSNP: rs938448224
rs938448224
STAT5B
7 0.807 0.160 17 42207711 missense variant T/G snv 7.0E-06 0.010 1.000 1 2019 2019