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: rs1047325
rs1047325
S100A2
2 1.000 0.040 1 153561551 missense variant C/T snv 7.1E-02 0.16 0.010 1.000 1 2009 2009
dbSNP: rs1048977
rs1048977
CDA
2 1.000 0.080 1 20618562 synonymous variant C/T snv 0.31 0.34 0.010 1.000 1 2015 2015
dbSNP: rs10889677
rs10889677
IL23R
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs11801299
rs11801299
LOC105371692
9 0.807 0.200 1 204559956 downstream gene variant G/A snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs12083239
rs12083239 		3 0.925 0.080 1 39985357 intergenic variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs121434264
rs121434264
CDC73 ; LOC101929160
6 0.851 0.080 1 193125171 missense variant T/C snv 0.010 1.000 1 2009 2009
dbSNP: rs121913255
rs121913255
NRAS
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.010 1.000 1 2010 2010
dbSNP: rs121913615
rs121913615
MPL
25 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs12733285
rs12733285
ADIPOR1
12 0.776 0.120 1 202952912 intron variant C/T snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs12757998
rs12757998 		3 0.925 0.080 1 182569343 downstream gene variant C/T snv 0.24 0.010 1.000 1 2010 2010
dbSNP: rs1332018
rs1332018
GSTM3 ; GSTM5
6 0.882 0.200 1 109740350 5 prime UTR variant G/T snv 0.64 0.66 0.010 1.000 1 2013 2013
dbSNP: rs1342387
rs1342387
ADIPOR1
12 0.776 0.120 1 202945228 intron variant T/C snv 0.53 0.010 1.000 1 2013 2013
dbSNP: rs1374013062
rs1374013062
PIK3CD
1 1 9720852 frameshift variant GGCGCTAGCCCGGC/- del 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs138551214
rs138551214
EPHB2
4 0.925 0.080 1 22909025 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs138842024
rs138842024
DFFA
1 1 10469269 missense variant A/G snv 3.5E-03 3.1E-03 0.010 1.000 1 2004 2004
dbSNP: rs1406268326
rs1406268326
PTPRC
1 1 198750519 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs143302534
rs143302534
ARHGEF2
1 1 155966447 synonymous variant G/A snv 3.6E-05 7.7E-05 0.010 1.000 1 2017 2017
dbSNP: rs144206303
rs144206303
TP73
1 1 3732853 missense variant G/A snv 1.7E-05 2.8E-05 0.010 1.000 1 2009 2009
dbSNP: rs1458567397
rs1458567397
RGSL1
3 0.925 0.080 1 182530861 missense variant C/T snv 1.9E-05 0.010 1.000 1 2011 2011
dbSNP: rs1464894231
rs1464894231
MUC1
1 1 155187294 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1474630243
rs1474630243
MTX1 ; THBS3
1 1 155209072 missense variant G/T snv 0.010 1.000 1 1999 1999
dbSNP: rs16850799
rs16850799
ADIPOR1
1 1 202950723 intron variant G/A snv 0.20 0.010 1.000 1 2013 2013
dbSNP: rs17853189
rs17853189
FCGR3A
1 1 161543194 missense variant C/A snv 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2015 2015