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: 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: rs1269486
rs1269486
GATA3 ; GATA3-AS1 ; LOC107984204
2 0.925 0.120 10 8054236 intron variant A/G snv 0.77 0.010 1.000 1 2012 2012
dbSNP: rs12743184
rs12743184 		1 1.000 0.120 1 157784569 intergenic variant A/G snv 0.21 0.700 1.000 1 2011 2011
dbSNP: rs130078
rs130078
CCHCR1
1 1.000 0.120 6 31150788 synonymous variant C/G snv 0.74 0.75 0.700 1.000 1 2011 2011
dbSNP: rs1308479098
rs1308479098
TG
2 0.925 0.120 8 132887384 missense variant G/A snv 0.010 1.000 1 2012 2012
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: rs1371808321
rs1371808321
VCAM1
1 1.000 0.120 1 100724755 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs1393032636
rs1393032636
TTN
2 0.925 0.120 2 178783017 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs1425186769
rs1425186769
P2RX2
2 1.000 0.120 12 132620303 missense variant C/T snv 4.4E-05 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs144542704
rs144542704
RGS9
1 1.000 0.120 17 65208429 intron variant G/A snv 8.2E-04 0.700 1.000 1 2018 2018
dbSNP: rs1483068801
rs1483068801
P2RX6
2 1.000 0.120 22 21025861 missense variant T/C snv 1.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs15927
rs15927
ICOSLG
1 1.000 0.120 21 44227763 3 prime UTR variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1610591
rs1610591 		1 1.000 0.120 6 29710058 upstream gene variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs17534202
rs17534202 		7 1.000 0.120 1 203312047 downstream gene variant G/C snv 0.40 0.010 1.000 1 2014 2014
dbSNP: rs17545038
rs17545038
TSHR
1 1.000 0.120 14 80991228 intron variant T/C snv 0.20 0.700 1.000 1 2011 2011
dbSNP: rs17593222
rs17593222
STAT3
3 0.925 0.120 17 42360972 intron variant C/G snv 6.1E-02 0.010 1.000 1 2013 2013
dbSNP: rs179243
rs179243
TSHR
1 1.000 0.120 14 80962220 intron variant T/C snv 0.57 0.010 1.000 1 2014 2014
dbSNP: rs179249
rs179249
TSHR
1 1.000 0.120 14 80968855 intron variant C/T snv 0.59 0.700 1.000 1 2011 2011
dbSNP: rs180223
rs180223
TG
2 0.925 0.120 8 132888007 missense variant T/A;C;G snv 8.0E-06; 4.0E-06; 0.58 0.010 1.000 1 2008 2008
dbSNP: rs204295
rs204295
FGFR1OP
1 1.000 0.120 6 167087074 intron variant C/T snv 0.50 0.700 1.000 1 2011 2011
dbSNP: rs2069550
rs2069550
TG
2 0.925 0.120 8 132888141 synonymous variant T/C snv 0.58 0.60 0.010 1.000 1 2010 2010
dbSNP: rs2071400
rs2071400
TPO
3 0.882 0.120 2 1412867 intron variant C/T snv 0.11 0.010 1.000 1 2017 2017
dbSNP: rs2071403
rs2071403
TPO
2 0.925 0.120 2 1413472 5 prime UTR variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2071652
rs2071652
MOG
1 1.000 0.120 6 29667540 intron variant C/T snv 4.4E-02 0.700 1.000 1 2011 2011
dbSNP: rs2075580
rs2075580
DDX39B ; SNORD117 ; ATP6V1G2-DDX39B
1 1.000 0.120 6 31536198 intron variant G/A;C snv 0.700 1.000 1 2011 2011