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: rs28493229
rs28493229
COQ8B ; ITPKC
3 0.925 0.200 19 40718299 intron variant G/A;C snv 6.0E-06; 0.12 0.890 0.900 10 2010 2018
dbSNP: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.880 1.000 9 2011 2019
dbSNP: rs2857151
rs2857151 		2 0.925 0.160 6 32795737 intergenic variant A/C;G snv 0.810 1.000 2 2012 2013
dbSNP: rs1042579
rs1042579
THBD
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.010 1.000 1 2018 2018
dbSNP: rs11340705
rs11340705
LINC00690
1 1.000 0.120 3 16526578 intron variant AA/-;A;AAA delins 0.010 1.000 1 2013 2013
dbSNP: rs11734
rs11734
ZSCAN25
1 1.000 0.120 7 99632145 3 prime UTR variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs11793049
rs11793049
ZNF618
2 0.925 0.120 9 114011589 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs13256690
rs13256690 		1 1.000 0.120 8 11481059 non coding transcript exon variant G/A;C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs1382568
rs1382568
BLK
2 0.925 0.160 8 11493711 intron variant A/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs1412125
rs1412125
HMGB1
17 0.724 0.360 13 30467458 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1478900
rs1478900
BLK
1 1.000 0.120 8 11490151 intron variant C/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs1561876
rs1561876
STIM1
2 0.925 0.160 11 4092165 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1564267
rs1564267 		2 0.925 0.160 8 11480378 non coding transcript exon variant T/A;C;G snv 0.700 1.000 1 2012 2012
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: rs2227981
rs2227981
PDCD1 ; LOC105373977
12 0.763 0.400 2 241851121 synonymous variant A/C;G snv 1.6E-04; 0.63 0.010 1.000 1 2010 2010
dbSNP: rs2229634
rs2229634
ITPR3
4 0.851 0.240 6 33670403 synonymous variant C/A;T snv 4.0E-06; 0.33 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: 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: 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: 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: rs2292832
rs2292832
GPC1 ; MIR149 ; LOC100130449
46 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 0.010 1.000 1 2019 2019
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs2409781
rs2409781
BLK
2 0.925 0.120 8 11502048 intron variant T/A;C snv 0.700 1.000 1 2012 2012