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: rs1018379423
rs1018379423
EPHB2
4 1 22907986 missense variant G/T snv 4.0E-06 2.1E-05 0.010 1.000 1 2012 2012
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: rs1457127715
rs1457127715
ERBB2
2 17 39715810 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2011 2011
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: rs74751600
rs74751600
CHEK2
3 22 28695852 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs753066745
rs753066745
SH3BGRL
2 X 81277164 missense variant C/T snv 1.7E-05 9.5E-06 0.010 1.000 1 2016 2016
dbSNP: rs769394388
rs769394388
HNF4A ; LOC105372629
1 20 44355829 missense variant G/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs771308693
rs771308693
PTK2
2 8 140752306 missense variant G/A snv 3.2E-05 7.0E-06 0.010 1.000 1 2016 2016
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: rs778826879
rs778826879
MAPK3
3 16 30121948 missense variant C/G;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs863224683
rs863224683
TP53
4 17 7675224 missense variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.875 16 2001 2014