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: rs4713693
rs4713693 		1 1.000 0.120 6 33850152 intergenic variant T/C snv 0.45 0.810 1.000 1 2011 2011
dbSNP: rs11571297
rs11571297 		3 0.882 0.120 2 203880280 regulatory region variant T/C snv 0.44 0.800 1.000 1 2012 2012
dbSNP: rs1265883
rs1265883
SLAMF6
1 1.000 0.120 1 160495121 intron variant C/A;G snv 0.96 0.800 1.000 1 2013 2013
dbSNP: rs13093110
rs13093110
LPP
4 0.882 0.120 3 188407332 intron variant C/T snv 0.42 0.800 1.000 1 2012 2012
dbSNP: rs1456988
rs1456988 		2 0.925 0.160 14 98021670 intergenic variant G/T snv 0.61 0.800 1.000 1 2013 2013
dbSNP: rs2273017
rs2273017
TSBP1 ; TSBP1-AS1
1 1.000 0.120 6 32369853 intron variant G/A;C snv 0.59 0.800 1.000 1 2011 2011
dbSNP: rs2300519
rs2300519
TSHR
1 1.000 0.120 14 80992418 3 prime UTR variant T/A snv 0.41 0.800 1.000 1 2012 2012
dbSNP: rs2843403
rs2843403
MMEL1
3 0.882 0.200 1 2597658 intron variant T/C snv 0.54 0.800 1.000 1 2012 2012
dbSNP: rs3132613
rs3132613
ABCF1 ; ABCF1-DT
1 1.000 0.120 6 30569829 upstream gene variant C/A;G snv 0.800 1.000 1 2011 2011
dbSNP: rs3893464
rs3893464
HLA-A
3 1.000 0.120 6 29967473 downstream gene variant G/A snv 0.46 0.800 1.000 1 2011 2011
dbSNP: rs4248154
rs4248154
MUC22
2 0.925 0.200 6 31034839 synonymous variant C/T snv 0.20 0.17 0.800 1.000 1 2011 2011
dbSNP: rs4313034
rs4313034
HLA-A ; HLA-J ; ZNRD1ASP
3 0.925 0.160 6 30006148 non coding transcript exon variant C/T snv 0.78 0.800 1.000 1 2011 2011
dbSNP: rs4768412
rs4768412
PRICKLE1
2 0.925 0.200 12 42475338 intron variant C/T snv 0.32 0.800 1.000 1 2012 2012
dbSNP: rs505922
rs505922
ABO
34 0.689 0.520 9 133273813 intron variant C/T snv 0.800 1.000 1 2013 2013
dbSNP: rs57348955
rs57348955 		3 0.882 0.120 16 31174561 upstream gene variant G/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs9394159
rs9394159
ITPR3
1 1.000 0.120 6 33650385 intron variant A/T snv 0.45 0.800 1.000 1 2011 2011
dbSNP: rs7537605
rs7537605
VAV3
3 0.882 0.120 1 107800465 intron variant G/A;T snv 0.710 1.000 1 2015 2015
dbSNP: rs10145099
rs10145099
TSHR
1 1.000 0.120 14 80990350 intron variant C/T snv 0.35 0.700 1.000 1 2011 2011
dbSNP: rs10197319
rs10197319 		1 1.000 0.120 2 203898321 regulatory region variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1044043
rs1044043
TAP2
1 1.000 0.120 6 32826204 3 prime UTR variant A/C snv 0.82 0.700 1.000 1 2011 2011
dbSNP: rs10908583
rs10908583 		1 1.000 0.120 1 157671893 downstream gene variant C/T snv 0.57 0.700 1.000 1 2011 2011
dbSNP: rs1149386
rs1149386 		1 1.000 0.120 1 160471451 TF binding site variant G/C snv 0.96 0.700 1.000 1 2011 2011
dbSNP: rs116869525
rs116869525 		2 0.925 0.160 6 32421366 intergenic variant C/T snv 3.5E-03 0.700 1.000 1 2015 2015
dbSNP: rs12050151
rs12050151
CEP128
1 1.000 0.120 14 80902473 intron variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs12451295
rs12451295 		2 0.925 0.280 17 70380682 intergenic variant C/T snv 0.61 0.700 1.000 1 2019 2019