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: rs386834236
rs386834236
GAA
6 0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03 0.700 1.000 18 1988 2015
dbSNP: rs1555943503
rs1555943503
RPS6KA3
2 1.000 X 20195156 intron variant T/C snv 0.700 1.000 11 2001 2015
dbSNP: rs1553263326
rs1553263326
NTRK1
2 1.000 1 156881446 intron variant G/A snv 0.700 1.000 3 2012 2017
dbSNP: rs1318353774
rs1318353774
CACNA1A
2 1.000 19 13298827 stop gained G/A;C snv 0.700 1.000 46 1988 2017
dbSNP: rs137854562
rs137854562
NF1
4 0.925 0.120 17 31235623 stop gained C/T snv 0.700 1.000 34 1967 2017
dbSNP: rs1555534380
rs1555534380
NF1
1 1.000 17 31334860 stop gained T/A snv 0.700 1.000 34 1967 2017
dbSNP: rs1554698878
rs1554698878
HNRNPK
4 0.925 9 83971976 stop gained G/A snv 0.700 1.000 30 1996 2018
dbSNP: rs113001196
rs113001196
FBN1
5 0.882 0.160 15 48432947 stop gained G/A snv 0.700 1.000 29 1986 2016
dbSNP: rs1555899242
rs1555899242
SON
2 1.000 21 33554269 stop gained G/T snv 0.700 1.000 28 1988 2016
dbSNP: rs1555899379
rs1555899379
SON
2 1.000 21 33554726 stop gained CTG/- del 0.700 1.000 28 1988 2016
dbSNP: rs1553602498
rs1553602498
CUL3
1 1.000 2 224497809 stop gained G/A snv 0.700 1.000 25 1986 2016
dbSNP: rs574622908
rs574622908
KMT2D
2 1.000 12 49046358 stop gained G/C;T snv 4.0E-06 0.700 1.000 25 1988 2017
dbSNP: rs587783685
rs587783685
KMT2D
5 0.925 0.120 12 49032113 stop gained G/A snv 0.700 1.000 25 1988 2017
dbSNP: rs587783690
rs587783690
KMT2D
3 0.925 0.120 12 49031255 stop gained G/A snv 0.700 1.000 25 1988 2017
dbSNP: rs1553749681
rs1553749681
DOCK3
4 0.925 3 51064514 stop gained C/T snv 0.700 1.000 23 2000 2018
dbSNP: rs150800017
rs150800017
KMT2A
1 1.000 11 118489816 stop gained C/G;T snv 8.0E-06 0.700 1.000 22 1989 2017
dbSNP: rs1553630472
rs1553630472
CTNNB1
1 1.000 3 41225721 stop gained C/T snv 0.700 1.000 22 1991 2017
dbSNP: rs1555039343
rs1555039343
KMT2A
1 1.000 11 118481870 stop gained C/T snv 0.700 1.000 22 1989 2017
dbSNP: rs1555046404
rs1555046404
KMT2A
1 1.000 11 118503042 stop gained C/T snv 0.700 1.000 22 1989 2017
dbSNP: rs1555778204
rs1555778204
TCF4
2 1.000 18 55261525 stop gained C/A snv 0.700 1.000 22 2007 2017
dbSNP: rs775104326
rs775104326
CTNNB1
10 0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 0.700 1.000 22 1991 2017
dbSNP: rs781978013
rs781978013
KMT2A
3 1.000 11 118472681 stop gained G/A;T snv 4.0E-06 0.700 1.000 22 1989 2017
dbSNP: rs868985556
rs868985556
KMT2A
1 1.000 11 118478083 stop gained C/T snv 0.700 1.000 22 1989 2017
dbSNP: rs886041896
rs886041896
KMT2A
2 1.000 11 118494360 stop gained A/T snv 0.700 1.000 22 1989 2017
dbSNP: rs1057518496
rs1057518496
SATB2
2 1.000 2 199349006 stop gained G/A snv 0.700 1.000 21 1989 2017