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: rs34445740
rs34445740
SMAD3
2 0.925 0.080 15 67183426 intron variant -/A delins 0.29 0.700 1.000 1 2019 2019
dbSNP: rs796051881
rs796051881
PEX5
9 0.807 0.440 12 7202274 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs540485182
rs540485182 		2 0.925 0.080 5 110825774 intergenic variant -/A;AA;AAA delins 0.700 1.000 1 2019 2019
dbSNP: rs1799768
rs1799768
SERPINE1
6 0.807 0.360 7 101126425 upstream gene variant -/A;C ins 0.010 1.000 1 2019 2019
dbSNP: rs3831317
rs3831317
CHIT1
2 0.925 0.080 1 203217822 stop gained -/AGACCATGGCCCCGCCCAGTCCCT delins 0.010 1.000 1 2016 2016
dbSNP: rs10699671
rs10699671
NDFIP1
2 0.925 0.080 5 142139375 intron variant -/AGG delins 0.68 0.700 1.000 1 2019 2019
dbSNP: rs560026225
rs560026225 		1 1.000 0.080 4 122134546 intergenic variant -/AT delins 1.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs71266076
rs71266076 		1 1.000 0.080 8 80354702 intron variant -/C;TGAGACA ins 1.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs202011557
rs202011557 		1 1.000 0.080 2 102297182 intergenic variant -/CAA delins 0.700 1.000 1 2016 2016
dbSNP: rs113092121
rs113092121
KIF11
2 0.925 0.080 10 92624756 intron variant -/CTCT delins 0.700 1.000 1 2019 2019
dbSNP: rs149317277
rs149317277
ITGB8
2 0.925 0.080 7 20384300 intron variant -/GAAACAAGATTCT;GAACCAAGATTCT delins 0.36 0.700 1.000 1 2019 2019
dbSNP: rs113612868
rs113612868
TCAP
1 1.000 0.080 17 39665182 upstream gene variant -/T ins 0.700 1.000 1 2010 2010
dbSNP: rs11412402
rs11412402
EEFSEC
2 0.925 0.080 3 128194003 intron variant -/T ins 0.65 0.700 1.000 1 2019 2019
dbSNP: rs869312169
rs869312169
DOCK8
3 0.925 0.080 9 452067 frameshift variant -/T delins 0.700 0
dbSNP: rs10667251
rs10667251 		4 0.925 0.080 17 49388381 intron variant -/TCT delins 0.47 0.700 1.000 1 2019 2019
dbSNP: rs140522418
rs140522418
LOC107984408
2 0.925 0.080 11 128302942 intergenic variant A/-;AA delins 0.700 1.000 1 2019 2019
dbSNP: rs35204956
rs35204956 		2 0.925 0.080 8 80389778 intron variant A/-;AA;AAA delins 0.700 1.000 1 2019 2019
dbSNP: rs1342326
rs1342326 		9 0.790 0.360 9 6190076 intergenic variant A/C snv 0.21 0.840 1.000 6 2010 2020
dbSNP: rs4790522
rs4790522
TRPV1
2 0.925 0.080 17 3566559 3 prime UTR variant A/C snv 0.55 0.020 1.000 2 2015 2015
dbSNP: rs7219080
rs7219080
GSDMA
1 1.000 0.080 17 39958263 intron variant A/C snv 0.65 0.710 1.000 2 2010 2016
dbSNP: rs10045431
rs10045431 		4 0.851 0.240 5 159387525 intron variant A/C snv 0.78 0.700 1.000 1 2011 2011
dbSNP: rs1012307
rs1012307
LINC01931 ; MMADHC-DT
1 1.000 0.080 2 149798707 intron variant A/C snv 4.9E-02 0.700 1.000 1 2014 2014
dbSNP: rs10455025
rs10455025
TSLP
3 1.000 0.080 5 111069301 upstream gene variant A/C snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs1054609
rs1054609
ZPBP2
2 0.925 0.160 17 39877024 3 prime UTR variant A/C snv 0.40 0.700 1.000 1 2011 2011
dbSNP: rs11048311
rs11048311 		1 1.000 0.080 12 25869205 downstream gene variant A/C snv 0.18 0.700 1.000 1 2011 2011