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: rs12423190
rs12423190
PTPN11
1 1.000 0.040 12 112471536 intron variant T/C snv 8.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs1440526066
rs1440526066
IL4 ; LOC105379176
1 1.000 0.040 5 132679827 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs1886753
rs1886753
TDRG1
1 1.000 0.040 6 40359357 non coding transcript exon variant C/T snv 0.42 0.010 1.000 1 2017 2017
dbSNP: rs61516247
rs61516247
LINC00951 ; TDRG1
1 1.000 0.040 6 40344500 non coding transcript exon variant G/A snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs7481521
rs7481521
MUC6
1 1.000 0.040 11 1027811 missense variant C/T snv 0.50 0.47 0.010 1.000 1 2012 2012
dbSNP: rs764097618
rs764097618
IL4R
1 1.000 0.040 16 27360794 splice donor variant G/A snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs765803011
rs765803011
IL4R
1 1.000 0.040 16 27363094 missense variant C/G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs7747696
rs7747696 		1 1.000 0.040 6 42093217 non coding transcript exon variant A/G snv 0.54 0.010 1.000 1 2017 2017
dbSNP: rs7749023
rs7749023 		1 1.000 0.040 6 42093995 non coding transcript exon variant A/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs9315542
rs9315542
LINC00571 ; LINC02334
1 1.000 0.040 13 38057334 intron variant T/C snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs1042194
rs1042194
CYP2C18
2 1.000 0.040 10 94735727 3 prime UTR variant G/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs10505799
rs10505799 		2 1.000 0.040 12 16293334 intergenic variant T/C snv 0.10 0.010 1.000 1 2013 2013
dbSNP: rs2014486
rs2014486
MUC5B
2 1.000 0.040 11 1237573 intron variant A/G snv 0.52 0.010 1.000 1 2012 2012
dbSNP: rs2920283
rs2920283
PSCA ; JRK
2 0.925 0.040 8 142675619 intron variant T/C snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs6878265
rs6878265 		2 1.000 0.040 5 120069960 intergenic variant C/T snv 0.29 0.010 1.000 1 2013 2013
dbSNP: rs158916
rs158916
NDUFAF2
3 0.882 0.080 5 60949318 intron variant A/G snv 0.15 0.020 1.000 2 2015 2017
dbSNP: rs2029298
rs2029298
DDB2
3 0.882 0.080 11 47213167 upstream gene variant C/T snv 0.62 0.010 1.000 1 2016 2016
dbSNP: rs254942
rs254942
ERCC4
3 0.882 0.080 16 13932150 splice region variant G/A;C;T snv 0.97; 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs326222
rs326222
DDB2
3 0.882 0.080 11 47238117 intron variant T/C snv 0.60 0.58 0.010 1.000 1 2016 2016
dbSNP: rs3781619
rs3781619
DDB2
3 0.882 0.080 11 47233766 intron variant G/A snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs3789210
rs3789210
PGC
3 0.882 0.080 6 41743584 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs3805246
rs3805246
GAB1
3 0.882 0.120 4 143382955 intron variant G/A snv 0.31 0.010 < 0.001 1 2010 2010
dbSNP: rs3814896
rs3814896
TFF2 ; LOC105372815
3 0.882 0.080 21 42351602 upstream gene variant A/G snv 0.17 0.010 1.000 1 2013 2013
dbSNP: rs4711690
rs4711690
PGC
3 0.882 0.080 6 41741200 missense variant C/G snv 0.19 0.20 0.010 1.000 1 2013 2013
dbSNP: rs6912200
rs6912200
PGC
3 0.925 0.080 6 41750170 intron variant C/T snv 0.54 0.010 < 0.001 1 2016 2016