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: rs1877672
rs1877672
LOC107986926
1 1.000 0.120 8 22705683 intron variant A/G snv 0.20 0.700 1.000 1 2011 2011
dbSNP: rs2076311
rs2076311
COL11A2
1 1.000 0.120 6 33177592 intron variant C/A snv 0.32 0.010 1.000 1 2010 2010
dbSNP: rs2130392
rs2130392
CENPU
1 1.000 0.120 4 184718015 intron variant G/A;C;T snv 0.800 1.000 1 2012 2012
dbSNP: rs2232367
rs2232367
FOXP3
1 1.000 0.120 X 49256855 splice region variant G/A snv 3.1E-02 3.0E-02 0.010 1.000 1 2010 2010
dbSNP: rs2233152
rs2233152
MIA ; MIA-RAB4B
1 1.000 0.120 19 40775111 intron variant G/A;T snv 0.800 1.000 1 2012 2012
dbSNP: rs2244234
rs2244234 		1 1.000 0.120 8 11478958 upstream gene variant T/G snv 0.83 0.700 1.000 1 2012 2012
dbSNP: rs2250412
rs2250412
BLK
1 1.000 0.120 8 11497061 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs2250788
rs2250788
BLK
1 1.000 0.120 8 11494547 5 prime UTR variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2251056
rs2251056
BLK
1 1.000 0.120 8 11492067 intron variant C/A snv 0.83 0.700 1.000 1 2012 2012
dbSNP: rs2252729
rs2252729
BLK
1 1.000 0.120 8 11510710 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2254891
rs2254891 		1 1.000 0.120 8 11483620 upstream gene variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs2256184
rs2256184
MICA
1 1.000 0.120 6 31412806 intron variant A/G snv 0.54 0.010 1.000 1 2011 2011
dbSNP: rs2290692
rs2290692
ITPKC ; C19orf54
1 1.000 0.120 19 40740473 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2293256
rs2293256
ATP5MF ; PTCD1 ; ATP5MF-PTCD1
1 1.000 0.120 7 99460078 splice region variant G/A snv 5.8E-02 9.2E-02 0.700 1.000 1 2013 2013
dbSNP: rs2293689
rs2293689
HAMP
1 1.000 0.120 19 35284723 non coding transcript exon variant C/T snv 2.5E-02 0.010 1.000 1 2017 2017
dbSNP: rs2301747
rs2301747
MICA
1 1.000 0.120 6 31403810 intron variant C/G snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs2409780
rs2409780 		1 1.000 0.120 8 11480078 intron variant T/C snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs2523790
rs2523790 		1 1.000 0.120 6 29835873 downstream gene variant T/G snv 0.38 0.010 1.000 1 2008 2008
dbSNP: rs2618455
rs2618455
BLK
1 1.000 0.120 8 11513369 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2618457
rs2618457
BLK
1 1.000 0.120 8 11511668 intron variant A/G snv 0.85 0.700 1.000 1 2012 2012
dbSNP: rs2618458
rs2618458
BLK
1 1.000 0.120 8 11511559 intron variant A/C;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2618467
rs2618467
BLK
1 1.000 0.120 8 11504734 intron variant T/C snv 0.86 0.700 1.000 1 2012 2012
dbSNP: rs2618469
rs2618469
BLK
1 1.000 0.120 8 11501871 intron variant G/A snv 0.84 0.700 1.000 1 2012 2012
dbSNP: rs2618471
rs2618471
BLK
1 1.000 0.120 8 11501511 intron variant C/G snv 0.37 0.700 1.000 1 2012 2012
dbSNP: rs2618473
rs2618473 		1 1.000 0.120 8 11486618 upstream gene variant C/T snv 0.34 0.700 1.000 1 2012 2012