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: rs786205232
rs786205232
KCNA2
5 0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 0.700 1.000 28 1991 2017
dbSNP: rs886041761
rs886041761
KCNA2
6 0.925 0.200 1 110603902 missense variant C/T snv 0.700 1.000 28 1991 2017
dbSNP: rs1553270522
rs1553270522
ZBTB18
3 1.000 1 244054804 frameshift variant GATGA/- delins 0.700 1.000 26 1997 2017
dbSNP: rs875989786
rs875989786
ZBTB18
2 1.000 1 244054957 stop gained C/T snv 0.700 1.000 26 1997 2017
dbSNP: rs1413339367
rs1413339367
SLC2A1
1 1 42930661 stop gained G/A snv 0.700 1.000 21 1991 2016
dbSNP: rs1553156053
rs1553156053
SLC2A1
3 1.000 1 42929652 stop gained G/A snv 0.700 1.000 21 1991 2016
dbSNP: rs1553259529
rs1553259529
MPZ
3 1.000 1 161306152 frameshift variant -/C delins 0.700 1.000 14 1998 2015
dbSNP: rs1553212545
rs1553212545
POGZ
3 1.000 1 151406046 stop gained G/A snv 0.700 1.000 13 1999 2017
dbSNP: rs1553182964
rs1553182964
NFIA
2 1 61404170 frameshift variant ACTT/- delins 0.700 1.000 12 1999 2015
dbSNP: rs1553245178
rs1553245178
ATP1A2
1 1 160130548 missense variant G/A snv 0.700 1.000 12 1992 2017
dbSNP: rs145588689
rs145588689
ADAR
4 0.882 0.200 1 154602065 missense variant G/C;T snv 2.2E-03; 4.0E-06 0.700 1.000 9 2003 2016
dbSNP: rs779357448
rs779357448
ADAR
3 0.925 0.080 1 154590246 frameshift variant CT/- del 8.0E-06 1.4E-05 0.700 1.000 9 2003 2016
dbSNP: rs121918243
rs121918243
MMACHC
5 0.882 0.160 1 45508848 missense variant G/A snv 1.7E-04 7.7E-05 0.700 1.000 7 2006 2015
dbSNP: rs1553262429
rs1553262429
GJC2
2 1.000 1 228157838 stop gained G/A snv 0.700 1.000 7 2004 2014
dbSNP: rs1553262430
rs1553262430
GJC2
2 1.000 1 228157841 missense variant T/C snv 0.700 1.000 7 2004 2014
dbSNP: rs1468358104
rs1468358104
FLVCR1 ; FLVCR1-DT
3 1 212858454 start lost T/C snv 3.7E-05 0.700 1.000 6 1997 2016
dbSNP: rs372754256
rs372754256
FLG ; FLG-AS1
3 1.000 1 152307855 stop gained G/C snv 4.7E-04 9.8E-05 0.700 1.000 6 1966 2013
dbSNP: rs899735028
rs899735028
FLVCR1 ; FLVCR1-DT
2 1 212858455 start lost G/T snv 1.4E-05 0.700 1.000 6 1997 2016
dbSNP: rs946006593
rs946006593
GATAD2B
2 1 153812108 stop gained G/A;C snv 0.700 1.000 4 2012 2016
dbSNP: rs776095655
rs776095655
SLC2A1
8 0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06 0.700 1.000 3 2011 2015
dbSNP: rs1553252938
rs1553252938
EMC1 ; EMC1-AS1
2 1 19232655 missense variant G/T snv 0.700 1.000 2 2013 2016
dbSNP: rs137852695
rs137852695
PPT1
4 0.925 0.120 1 40091398 missense variant T/A snv 7.0E-04 6.0E-04 0.700 0
dbSNP: rs143657539
rs143657539
PPT1
2 1 40092054 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.700 0
dbSNP: rs781139634
rs781139634
DNMT3A
2 2 25235768 stop gained G/A snv 7.0E-06 0.700 1.000 36 1989 2018