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: rs1188716288
rs1188716288
KDM5D
2 0.925 0.120 Y 19721145 missense variant A/G snv 1.5E-05 0.010 < 0.001 1 2010 2010
dbSNP: rs3212227
rs3212227
IL12B
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs370664935
rs370664935
HSPD1 ; HSPE1 ; HSPE1-MOB4
1 1.000 2 197498824 missense variant G/C snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 < 0.001 1 2010 2010