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: rs4149584
rs4149584
TNFRSF1A
24 0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02 0.020 1.000 2 2001 2011
dbSNP: rs104895224
rs104895224
TNFRSF1A
3 0.882 0.080 12 6333808 missense variant C/G;T snv 0.010 1.000 1 2001 2001
dbSNP: rs1052954321
rs1052954321
ALPK1
6 0.882 4 112427580 missense variant C/T snv 0.010 1.000 1 2019 2019
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 2014 2014
dbSNP: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2000 2000