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: rs1555729045
rs1555729045
KMT2B
1 19 35721772 stop gained C/T snv 0.700 1.000 9 1999 2017
dbSNP: rs1555734923
rs1555734923
KMT2B
1 19 35738078 stop gained C/T snv 0.700 1.000 9 1999 2017
dbSNP: rs545986367
rs545986367
CSTB
4 0.882 0.080 21 43774690 stop gained G/A snv 3.2E-05 7.0E-06 0.700 1.000 8 2002 2017
dbSNP: rs1553262429
rs1553262429
GJC2
2 1.000 1 228157838 stop gained G/A snv 0.700 1.000 7 2004 2014
dbSNP: rs185142838
rs185142838
ERCC6
5 0.851 0.400 10 49461473 stop gained G/A snv 1.4E-04 9.1E-05 0.700 1.000 7 1992 2016
dbSNP: rs1213060424
rs1213060424
DLG3
2 X 70449787 stop gained C/A;T snv 0.700 1.000 6 2004 2017
dbSNP: rs1555535739
rs1555535739
CTCF
3 1.000 16 67626653 stop gained C/T snv 0.700 1.000 6 2008 2017
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: rs768131676
rs768131676
NGLY1
2 1.000 0.080 3 25732339 stop gained G/A snv 2.0E-05 2.8E-05 0.700 1.000 6 2001 2017
dbSNP: rs1242562412
rs1242562412
ERBB2 ; PGAP3
3 1.000 17 39687906 stop gained C/A snv 2.1E-05 0.700 1.000 5 2007 2018
dbSNP: rs1437184398
rs1437184398
GPT2
4 0.925 0.120 16 46884785 stop gained C/T snv 7.2E-06 0.700 1.000 5 2014 2018
dbSNP: rs201337850
rs201337850
MRPS22
2 3 139348309 stop gained T/G snv 4.0E-06 7.0E-06 0.700 1.000 5 2007 2017
dbSNP: rs121434376
rs121434376
SETX
2 1.000 0.080 9 132327511 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 4 2004 2009
dbSNP: rs1555511101
rs1555511101
GAN
1 16 81354554 stop gained C/G snv 0.700 1.000 4 1990 2009
dbSNP: rs80338933
rs80338933
SH3TC2
9 0.807 0.080 5 149026872 stop gained G/A snv 7.5E-04; 4.0E-06 6.6E-04 0.700 1.000 4 1997 2011
dbSNP: rs946006593
rs946006593
GATAD2B
2 1 153812108 stop gained G/A;C snv 0.700 1.000 4 2012 2016
dbSNP: rs1554923218
rs1554923218
TH
1 11 2167458 stop gained G/C snv 0.700 1.000 3 2010 2014
dbSNP: rs752283089
rs752283089
ZFYVE26
1 14 67783217 stop gained G/T snv 4.0E-06 0.700 1.000 2 2013 2015
dbSNP: rs869312914
rs869312914
ZFYVE26
2 1.000 0.120 14 67752520 stop gained G/A snv 0.700 1.000 2 2013 2015
dbSNP: rs1555869758
rs1555869758
KCNQ2
3 1.000 0.040 20 63438654 missense variant T/C snv 0.700 1.000 29 1980 2017
dbSNP: rs1555873985
rs1555873985
KCNQ2 ; KCNQ2-AS1
4 0.925 20 63445322 missense variant G/A;C snv 0.700 1.000 29 1980 2017
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: rs1064797245
rs1064797245
ATP1A3
12 0.776 0.280 19 41970540 missense variant G/A snv 0.700 1.000 27 1988 2017
dbSNP: rs200891944
rs200891944
ATP1A3
1 19 41981976 missense variant C/A;T snv 0.700 1.000 27 1988 2017