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: rs1051992
rs1051992
CAVIN3 ; LOC101927825
1 11 6319476 missense variant A/G snv 4.2E-06; 0.55 0.51 0.010 1.000 1 2012 2012
dbSNP: rs11646171
rs11646171
CDH8
1 16 61824185 intron variant G/A snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs1261963959
rs1261963959
KIF1B
1 1 10297069 missense variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1372834410
rs1372834410
VGLL4 ; ATG7
1 3 11558705 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1453340173
rs1453340173
TSHZ1
1 18 75286531 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs148526538
rs148526538
KRT5
1 12 52520269 missense variant G/A;C snv 8.9E-05; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1634507
rs1634507
LOC101927369
1 17 36098180 regulatory region variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs169724
rs169724
SYK
1 9 90828217 intron variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs17227424
rs17227424
FANCA ; ZNF276
1 16 89738216 missense variant G/A;C snv 1.3E-05; 3.6E-02 0.010 1.000 1 2003 2003
dbSNP: rs182361
rs182361
SYK
1 9 90828077 intron variant C/A snv 0.11 0.010 1.000 1 2018 2018
dbSNP: rs201894482
rs201894482
HSPA9
1 5 138557977 missense variant G/A snv 6.0E-05 2.1E-05 0.010 < 0.001 1 2015 2015
dbSNP: rs2237306
rs2237306
GSDME
1 7 24717583 intron variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs769394388
rs769394388
HNF4A ; LOC105372629
1 20 44355829 missense variant G/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs7717457
rs7717457 		1 5 40887679 intergenic variant A/G snv 0.23 0.010 1.000 1 2019 2019
dbSNP: rs771939956
rs771939956
TP53
1 17 7670705 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs776225963
rs776225963
ATP4A
1 19 35555490 missense variant G/A;T snv 1.1E-04 0.010 1.000 1 2016 2016
dbSNP: rs776968306
rs776968306
FGFR1OP
1 6 167024793 missense variant C/T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs113561019
rs113561019
OGG1
2 1.000 0.080 3 9756791 missense variant G/A;T snv 3.9E-03; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs11777210
rs11777210
KBTBD11
2 1.000 0.080 8 1979843 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1356083197
rs1356083197
WDR26 ; CNIH3
2 1.000 0.040 1 224434068 missense variant C/T snv 1.5E-05 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs1374712964
rs1374712964
MUTYH
2 1.000 0.080 1 45332028 missense variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs138106763
rs138106763
SLC12A9
2 1.000 0.040 7 100857102 missense variant A/G snv 7.2E-05 1.2E-04 0.010 1.000 1 1998 1998
dbSNP: rs1390902532
rs1390902532
CDKN2A
2 1.000 0.040 9 21968766 missense variant T/C snv 7.4E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1400826115
rs1400826115
OGG1
2 1.000 0.080 3 9756770 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1457127715
rs1457127715
ERBB2
2 17 39715810 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2011 2011